AiPD: Autoinhibited Protein Database

Q9NR48

Gene name	ASH1L (KIAA1420, KMT2H)
Protein name	Histone-lysine N-methyltransferase ASH1L
Names	ASH1-like protein, huASH1, Absent small and homeotic disks protein 1 homolog, Lysine N-methyltransferase 2H
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55870
EC number	2.1.1.359: Methyltransferases
Protein Class	HISTONE-LYSINE N-METHYLTRANSFERASE ASH1 (PTHR46147)

Descriptions

ASH1L (absent, small, or homeotic-like 1) is a histone methyltransferase (HMTase) involved in gene activation. Its autoinhibitory loop in the post-SET subdomain blocks the access of histone substrate to the active site in the catalytic SET domain. There is another loop in the SET-I subdomain. The SET-I region forms key contacts with histone substrates, indicating that it likely functions in determining substrate specificity among different HMTases. The mutations within the SET-I loop decreases ASH1L enzyme activity. ASH1L also contains three C-terminal chromatic-interacting domains (bromodomain, plant homeodomain, and bromo-associated homology domain), which recognize post-translational modifications on native nucleosomes and facilitate catalytic activity of the SET domain via substrate recruitment.

Autoinhibitory domains (AIDs)

Target domain	2145-2267 (SET domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

2258-2266 (Autoinhibitory loop)

Target domain

2145-2267 (SET domain)

Relief mechanism

Partner binding (Binding of post-translationally modified nucleosomes)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Rogawski DS et al. (2015) "Two Loops Undergoing Concerted Dynamics Regulate the Activity of the ASH1L Histone Methyltransferase", Biochemistry, 54, 5401-13

Lee Y et al. (2019) "Structural Basis of MRG15-Mediated Activation of the ASH1L Histone Methyltransferase by Releasing an Autoinhibitory Loop", Structure (London, England : 1993), 27, 846-852.e3

Autoinhibited structure

Activated structure

12 structures for Q9NR48

Entry ID	Method	Resolution	Chain	Position	Source
3MQM	X-ray	254 A	A/B	2438-2561	PDB
3OPE	X-ray	290 A	A/B	2074-2293	PDB
4YNM	X-ray	219 A	A/B	2074-2293	PDB
4YNP	X-ray	290 A	A/B	2074-2293	PDB
4YPA	X-ray	230 A	A/B/C/D	2074-2293	PDB
4YPE	X-ray	220 A	A/B	2074-2293	PDB
4YPU	X-ray	260 A	A/B	2074-2293	PDB
6AGO	X-ray	310 A	A/B	2039-2293	PDB
6INE	X-ray	260 A	A	2026-2293	PDB
6WZW	X-ray	169 A	A	2074-2293	PDB
6X0P	X-ray	169 A	A/B/C/D	2074-2293	PDB
7Y0I	NMR	-	A	2584-2635	PDB

1843 variants for Q9NR48

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1204718205 RCV001252152	59	E>G	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001329679 rs1668868551	84	N>S	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
RCV001352689 rs1665984696	338	S>*	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
RCV001335914 rs754036049	470	V>missing	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
CA342733927 RCV000986427 rs1570942991	490	L>F	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000984990 CA342732574 rs1570942566	525	V>L	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs750164987 RCV001267350 CA1147285	620	H>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1665903377 RCV001329678	672	F>V	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
rs1665902242 RCV001267258	674	S>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001266047 rs767107285 CA1147242	721	K>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV000515788 rs1293246328 VAR_069406 CA342727039	724	A>S	MRD52; unknown pathological significance Intellectual disability, autosomal dominant 52 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs868289176 RCV001256128 CA342722983	885	P>H	Global developmental delay [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1665814715 RCV001252155	1081	A>T	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs1665802694 RCV001335915 RCV001796984	1133	V>L	ASH1L-related neurodevelopmental disorders Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
RCV000767526 rs1558148010	1222	K>missing	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
RCV000515794 rs1553265189	1236	E>missing	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
VAR_069408 CA30913139 rs539982914	1276	Y>H	MRD52; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
CA1147022 RCV001265868 rs760698477	1285	P>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
COSM278999 RCV001335916 rs758885213 CA1147011	1306	R>Q	large_intestine Intellectual disability, autosomal dominant 52 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1419733198 RCV001252153 CA342705355	1360	M>V	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001008541 RCV001249405 rs1570934766	1409	Y>missing	ASH1L-Related Disorder [ClinVar]	Yes	ClinVar dbSNP
CA1146966 rs13373934 RCV001252154 RCV000948567 VAR_055905	1416	S>P	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776962103 CA1146914 RCV001329680	1534	H>R	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1665699693 RCV001251912	1572	Q>R	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001329681 CA342697789 rs1207751518	1612	G>A	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001263324 rs1665688637	1613	S>R	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001236387 RCV001814286 rs1665684529	1635	S>missing	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
CA342688561 rs1280114281 RCV001329682	1684	R>Q	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000623928 CA1146805 rs762967225	1711	D>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs753734834 VAR_069409 CA1146768	1775	C>W	MRD52; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA1146731 rs752491383 RCV001095716	1860	A>T	ASH1L-related neurodevelopmental disorders [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1656806167 RCV001329684	2039	S>*	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
rs749494995 CA1146368 VAR_080559	2085	V>I	MRD52; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1553247374 CA342754746 RCV000515782	2148	E>*	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000677428 rs1553245038	2273	C>missing	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
CA1146208 rs201789145 RCV001251914	2337	I>N	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1146168 rs753029013 VAR_080561	2396	R>H	MRD52; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs1654197505 RCV001249718	2401	C>Y	ASH1L-related neurodevelopmental disorders [ClinVar]	Yes	ClinVar dbSNP
RCV001335917 rs1654048048	2436	N>D	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
RCV001249717 rs1167682897 CA342742638 RCV001249839	2482	D>G	ASH1L-related neurodevelopmental disorders Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1146051 rs749649980 RCV001335918	2593	Y>C	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000515803 rs1553242856	2595	D>missing	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
CA1145988 RCV001252151 COSM3689037 rs201394353	2664	R>H	Intellectual disability large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM1559944 RCV000623438 rs1001568799 CA30900168	2703	R>C	large_intestine Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA342724541 VAR_080562 rs1553241570 RCV000515795	2791	A>P	Intellectual disability, autosomal dominant 52 MRD52 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1652858406 RCV001335919	2821	K>R	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
RCV001335920 rs375668916 CA1145824	2886	R>L	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000515783 rs775592405	2957	R>missing	Intellectual disability, autosomal dominant 52 [ClinVar]	Yes	ClinVar dbSNP
CA1147551 rs753406103	3	P>A		No	ClinGen ExAC gnomAD
rs941197272 CA30912728	5	N>S		No	ClinGen TOPMed gnomAD
rs1193888970 CA342717346	6	T>S		No	ClinGen TOPMed gnomAD
rs1338615092 CA342717250	7	A>V		No	ClinGen gnomAD
CA1147550 rs777411239	8	M>V		No	ClinGen ExAC gnomAD
rs755568171 CA1147549	12	G>R		No	ClinGen ExAC gnomAD
CA1147548 rs753297401	14	D>A		No	ClinGen ExAC gnomAD
rs1321580908 CA342716979	14	D>N		No	ClinGen gnomAD
CA342716911 rs1443127886	15	S>C		No	ClinGen gnomAD
CA342716868 rs1391197337	16	E>D		No	ClinGen gnomAD
COSM30720 rs1327217540 CA342716888	16	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1147546 rs759915686	22	S>N		No	ClinGen ExAC gnomAD
rs908343803 CA342716618	23	P>L		No	ClinGen TOPMed gnomAD
rs908343803 CA30912713	23	P>R		No	ClinGen TOPMed gnomAD
COSM1334671 rs1470664170 CA342716561	25	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs751862423 CA1147545	26	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1147544 rs545408345	27	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773290434 CA1147542	27	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1147543 rs545408345	27	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1441034932 CA342716449	28	T>A		No	ClinGen TOPMed
rs1428513096 CA342716397	28	T>I		No	ClinGen gnomAD
CA1147539 rs761764613	30	T>S		No	ClinGen ExAC TOPMed gnomAD
CA1147538 rs370980279	32	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs772090388 CA1147537	33	S>G		No	ClinGen ExAC gnomAD
rs1558188654 CA342716238	34	K>N		No	ClinGen Ensembl
rs1270040737 CA342716246	34	K>R		No	ClinGen TOPMed
rs1340292764 CA342716182	35	R>K		No	ClinGen TOPMed
CA342716167 rs1200109119	35	R>S		No	ClinGen gnomAD
RCV001310872 rs1558188620 CA342716113	38	E>D		No	ClinGen ClinVar Ensembl dbSNP
CA1147536 rs745674657	39	L>I		No	ClinGen ExAC gnomAD
rs745674657 CA342716110	39	L>V		No	ClinGen ExAC gnomAD
rs778787049 CA1147535	40	E>G		No	ClinGen ExAC gnomAD
rs770847441 CA1147534	41	K>R		No	ClinGen ExAC gnomAD
rs1384072053 CA342716021	42	N>H		No	ClinGen gnomAD
CA342716002 rs1468050249	42	N>K		No	ClinGen TOPMed
CA1147533 rs749009326	43	T>K		No	ClinGen ExAC gnomAD
CA1147531 rs755691746	44	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1558188569 CA342715963	44	K>Q		No	ClinGen Ensembl
CA1147530 rs752098994	47	E>K		No	ClinGen ExAC gnomAD
CA1147529 rs138907231	50	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1147528 rs374072309	50	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1385570264 CA342715705	51	K>E		No	ClinGen gnomAD
rs766785066 CA1147526	51	K>R		No	ClinGen ExAC TOPMed gnomAD
rs750694607 CA1147524	52	R>Q		No	ClinGen ExAC gnomAD
rs199618784 CA1147525	52	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA30912654 rs1026018290	53	N>S		No	ClinGen TOPMed gnomAD
rs1416735817 CA342715603 COSM177558	54	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs765334229 CA1147523	58	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1204718205 CA342715428	59	E>A		No	ClinGen gnomAD
rs767947472 CA30912631	59	E>D		No	ClinGen Ensembl
CA1147520 rs767568776	60	A>G		No	ClinGen ExAC TOPMed gnomAD
CA342715403 rs1360448953	60	A>T		No	ClinGen gnomAD
CA1147521 rs767568776	60	A>V		No	ClinGen ExAC TOPMed gnomAD
CA342715342 rs1244265447	61	G>W		No	ClinGen gnomAD
rs1571053168 CA342715321	62	K>E		No	ClinGen Ensembl
CA342715277 rs1430820734	63	D>G		No	ClinGen gnomAD
CA1147518 rs147025395	65	G>D		No	ClinGen ESP ExAC gnomAD
rs147025395 CA30912612	65	G>V		No	ClinGen ESP ExAC gnomAD
rs1252120318 CA342715206	67	T>A		No	ClinGen gnomAD
rs201153025 CA1147517	68	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1418644741 CA342715138	69	A>S		No	ClinGen TOPMed gnomAD
CA1147516 rs142234064	70	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1334445031 CA342715057	71	Q>R		No	ClinGen TOPMed
rs146475561 CA1147515	72	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1147514 rs769272721	74	S>L		No	ClinGen ExAC TOPMed
CA30912592 rs201975309	78	T>A		No	ClinGen 1000Genomes
rs747697097 CA342714795	79	N>D		No	ClinGen ExAC gnomAD
CA1147513 rs747697097	79	N>Y		No	ClinGen ExAC gnomAD
rs1571052988 CA342714648	82	E>K		No	ClinGen Ensembl
CA1147511 rs754468135	84	N>K		No	ClinGen ExAC TOPMed gnomAD
rs747561358 CA1147510	87	L>F		No	ClinGen ExAC TOPMed gnomAD
CA342714418 rs1240366273	89	I>F		No	ClinGen gnomAD
CA342714420 rs1240366273	89	I>V		No	ClinGen gnomAD
rs1001928178 CA30912572	93	A>V		No	ClinGen Ensembl
rs867966554 CA30912570	98	K>N		No	ClinGen gnomAD
rs1018885108 CA30912568	100	P>Q		No	ClinGen Ensembl
rs1359259334 CA342714012	102	N>D		No	ClinGen gnomAD
CA342713995 rs750707815	102	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1147507 rs750707815	102	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1360495431 CA342713761	105	N>K		No	ClinGen gnomAD
rs757357705 CA1147505	109	R>P		No	ClinGen ExAC gnomAD
CA342713603 rs757357705	109	R>Q		No	ClinGen ExAC gnomAD
CA1147503 rs764329610	112	I>V		No	ClinGen ExAC gnomAD
CA342713443 rs1475364657	114	T>A		No	ClinGen TOPMed
rs111605066 RCV000883023 CA1147502	116	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA342713293 rs1170887213	117	K>R		No	ClinGen gnomAD
rs375367640 CA1147500	119	P>R		No	ClinGen ExAC gnomAD
rs762819058 CA1147499	120	R>K		No	ClinGen ExAC
CA342713015 rs1421832262	126	G>E		No	ClinGen TOPMed
CA1147498 rs772816032	129	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1197609630 CA342712873	130	D>G		No	ClinGen gnomAD
rs1334010226 CA342712788	132	K>R		No	ClinGen TOPMed
CA342712767 rs1238441171	133	N>S		No	ClinGen TOPMed
rs1233740479 CA342712619	136	C>S		No	ClinGen gnomAD
CA1147496 rs747812661	137	P>S		No	ClinGen ExAC TOPMed gnomAD
rs368390442 CA1147494	140	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs760195651 CA1147472	142	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1147470 rs546762132 RCV000994128	146	Y>C		No	ClinGen ClinVar 1000Genomes ExAC dbSNP
rs746423268 CA1147469	150	D>V		No	ClinGen ExAC gnomAD
rs779454818 CA1147468	151	D>G		No	ClinGen ExAC gnomAD
CA1147467 rs771241358	152	V>A		No	ClinGen ExAC gnomAD
rs994070182 CA30915837	153	A>T		No	ClinGen Ensembl
CA342746097 rs1429647028	153	A>V		No	ClinGen gnomAD
rs749630815 CA1147466	154	A>V		No	ClinGen ExAC
rs1231099091 CA342746044	155	I>T		No	ClinGen TOPMed
rs1187793386 CA342746012	156	E>D		No	ClinGen gnomAD
rs866370455 CA30915818	156	E>K		No	ClinGen Ensembl
CA342745788 rs1487074447	164	R>C		No	ClinGen TOPMed gnomAD
CA1147464 rs149664653	164	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs867360986 CA30915806	166	H>Y		No	ClinGen Ensembl
rs752963116 CA1147463	167	S>L		No	ClinGen ExAC gnomAD
rs371817037 CA30915794	169	G>A		No	ClinGen ESP gnomAD
rs371817037 CA342745688	169	G>E		No	ClinGen ESP gnomAD
CA342745667 rs1263596287	170	E>G		No	ClinGen gnomAD
rs139488466 CA1147462	171	N>H		No	ClinGen ESP ExAC gnomAD
rs139488466 CA342745651	171	N>Y		No	ClinGen ESP ExAC gnomAD
CA30915767 rs887857049	173	P>L		No	ClinGen gnomAD
CA342745477 rs755061874	177	K>N		No	ClinGen ExAC TOPMed gnomAD
CA342745488 rs1382674465	177	K>R		No	ClinGen gnomAD
rs1340085478 CA342745427	180	P>L		No	ClinGen gnomAD
CA30915756 rs1045277777	181	V>G		No	ClinGen Ensembl
rs1304052162 CA342745425	181	V>L		No	ClinGen gnomAD
CA342745384 rs1407136820	182	H>Q		No	ClinGen gnomAD
CA342745339 rs1364044249	185	M>V		No	ClinGen gnomAD
CA342745307 rs1252172703	186	A>E		No	ClinGen TOPMed
rs1163050427 CA342745294	187	D>H		No	ClinGen gnomAD
rs1197471555 CA342745248	189	I>V		No	ClinGen TOPMed
CA342745219 rs1429218755	190	N>K		No	ClinGen TOPMed
CA1147458 rs761531673	192	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1147457 rs753568698 COSM896945	192	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA30915751 rs992836176	194	S>C		No	ClinGen Ensembl
CA1147454 rs147342513	197	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342745069 rs1490741895	198	G>D		No	ClinGen gnomAD
rs1020184156 CA30915746	198	G>S		No	ClinGen TOPMed
CA342745067 rs1490741895	198	G>V		No	ClinGen gnomAD
CA342745045 rs771535213	200	R>G		No	ClinGen ExAC TOPMed gnomAD
CA30915745 rs771977891	200	R>Q		No	ClinGen Ensembl
CA1147453 rs771535213	200	R>W		No	ClinGen ExAC TOPMed gnomAD
CA342745028 rs1209049136	201	D>N		No	ClinGen gnomAD
rs759057682 CA1147452	202	P>A		No	ClinGen ExAC gnomAD
CA342744968 rs1164093973	203	D>H		No	ClinGen gnomAD
CA30915738 rs113061221	205	K>E		No	ClinGen Ensembl
CA1147451 rs774754506	206	D>N		No	ClinGen ExAC gnomAD
CA342744702 rs1216871119	208	A>T		No	ClinGen TOPMed gnomAD
rs1317440311 CA342744569	212	G>E		No	ClinGen gnomAD
rs771421315 CA1147450	213	G>A		No	ClinGen ExAC TOPMed gnomAD
rs923628488 CA30915723	215	S>G		No	ClinGen gnomAD
rs979082750 CA30915698	221	A>V		No	ClinGen gnomAD
rs1463594147 CA342744241	224	I>M		No	ClinGen gnomAD
rs770267277 CA1147447	226	T>S		No	ClinGen ExAC gnomAD
rs1317097485 CA342744169	227	C>Y		No	ClinGen TOPMed
rs371681795 CA342744058	229	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs371681795 CA1147445	229	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA342744004 rs1375628540	231	K>R		No	ClinGen gnomAD
rs1375628540 CA342744014	231	K>T		No	ClinGen gnomAD
rs755040349 CA1147444	232	S>P		No	ClinGen ExAC gnomAD
CA342743919 rs1331097347	234	K>E		No	ClinGen Ensembl
CA342743787 rs1208857933	237	P>L		No	ClinGen TOPMed
CA342743727 rs1263793030	238	K>T		No	ClinGen gnomAD
rs79972723 CA1147439	241	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA342743584 rs1269060230	242	T>I		No	ClinGen TOPMed
CA342743539 rs1490688485	244	T>A		No	ClinGen TOPMed
rs1570945230 CA342743514	245	T>A		No	ClinGen Ensembl
rs1202288807 CA342743505	246	A>P		No	ClinGen TOPMed
rs752333944 CA1147437	248	L>F		No	ClinGen ExAC gnomAD
rs900591514 CA30915655	250	S>N		No	ClinGen Ensembl
CA1147436 rs767158282	251	K>R		No	ClinGen ExAC gnomAD
rs758992852 CA1147435	254	I>M		No	ClinGen ExAC gnomAD
rs765801845 CA1147433	255	R>K		No	ClinGen ExAC gnomAD
rs367732920 CA1147432	257	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA342740996 rs1171695558	259	V>A		No	ClinGen gnomAD
CA342741011 rs1399605457	259	V>I		No	ClinGen gnomAD
rs1163166966 CA342740988	260	G>A		No	ClinGen TOPMed
CA342740987 rs1163166966	260	G>V		No	ClinGen TOPMed
rs773833326 CA1147430	261	S>C		No	ClinGen ExAC TOPMed gnomAD
rs773833326 CA30915605	261	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1176580461 CA342740859	268	K>E		No	ClinGen gnomAD
CA342740844 rs1366311115	269	D>N		No	ClinGen TOPMed
rs1558153395 CA342740815	271	I>K		No	ClinGen Ensembl
CA30915588 rs1037862803	273	K>T		No	ClinGen TOPMed
rs147074172 CA1147429	275	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs147074172 CA1147428	275	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA342740765 rs1361110492	276	I>V		No	ClinGen TOPMed
CA1147426 VAR_069405 rs186255422	277	S>G		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs138738661 CA1147424	284	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA342740669 rs1338483773	285	K>E		No	ClinGen TOPMed
CA342740633 rs1284268957	287	P>L		No	ClinGen gnomAD
CA342740640 rs758461604	287	P>S		No	ClinGen ExAC gnomAD
rs758461604 CA1147423	287	P>T		No	ClinGen ExAC gnomAD
CA342740620 rs1239902334	289	K>E		No	ClinGen TOPMed gnomAD
rs1384146370 CA342740615	289	K>R		No	ClinGen gnomAD
CA342740596 rs1317864930	290	K>N		No	ClinGen gnomAD
CA342740518 rs1449567875	295	A>E		No	ClinGen gnomAD
CA342740509 rs1338133463	296	A>P		No	ClinGen TOPMed gnomAD
CA342740507 rs1338133463	296	A>S		No	ClinGen TOPMed gnomAD
rs749277093 CA1147422	297	V>A		No	ClinGen ExAC gnomAD
CA30915568 rs955398090	297	V>I		No	ClinGen Ensembl
rs1284508171 CA342740460	298	G>E		No	ClinGen TOPMed
rs1213775168 CA342740463	298	G>R		No	ClinGen TOPMed
CA342740411 rs1570944674	301	N>S		No	ClinGen Ensembl
CA30915541 rs897066186	302	K>R		No	ClinGen gnomAD
CA1147419 rs752488026	304	S>C		No	ClinGen ExAC gnomAD
CA30915531 rs1014914188	307	K>N		No	ClinGen TOPMed
CA342740221 rs1422398672	313	T>A		No	ClinGen TOPMed
CA1147417 rs778670304	314	A>V		No	ClinGen ExAC gnomAD
CA342740151 rs1570944531 RCV000994127	315	V>A		No	ClinGen ClinVar Ensembl dbSNP
CA342740165 rs1448905012	315	V>I		No	ClinGen gnomAD
CA342740099 rs1386054183	317	I>V		No	ClinGen TOPMed
rs1216342133 CA342740000	320	N>S		No	ClinGen TOPMed gnomAD
CA1147414 rs762521275	324	K>E		No	ClinGen ExAC TOPMed gnomAD
CA342739798 rs765786580	327	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1147412 rs765786580	327	T>S		No	ClinGen ExAC TOPMed gnomAD
CA342739773 rs1553266299	328	I>N		No	ClinGen Ensembl
CA342739792 rs1356304111	328	I>V		No	ClinGen gnomAD
rs545242173 CA1147411	329	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA1147410 rs776983870	330	T>R		No	ClinGen ExAC gnomAD
rs1296031074 CA342739685	332	G>E		No	ClinGen gnomAD
CA342739615 rs1399146542	336	K>R		No	ClinGen gnomAD
rs747316217 CA1147408	340	K>Q		No	ClinGen ExAC gnomAD
CA342739513 rs1166655680	341	K>E		No	ClinGen gnomAD
CA342739490 rs1403497105	341	K>M		No	ClinGen gnomAD
rs1342280920 CA342739438	344	I>V		No	ClinGen gnomAD
rs1413004622 CA342739387	345	G>D		No	ClinGen gnomAD
rs775556643 CA1147407	346	I>T		No	ClinGen ExAC
CA342739305 rs1301289866	349	G>C		No	ClinGen gnomAD
CA342739224 rs1476471197	351	V>A		No	ClinGen gnomAD
CA342739082 rs1307969258	355	S>C		No	ClinGen TOPMed
CA342738991 rs1316980201	357	K>N		No	ClinGen TOPMed
rs754682525 CA1147405	357	K>R		No	ClinGen ExAC gnomAD
rs948136035 CA30915437	358	K>E		No	ClinGen TOPMed
CA342738942 rs896667964	358	K>N		No	ClinGen TOPMed gnomAD
CA342738654 rs1451518456	368	V>A		No	ClinGen gnomAD
rs747902477 CA1147402	370	K>Q		No	ClinGen ExAC gnomAD
rs1319453709 CA342738545	371	D>H		No	ClinGen gnomAD
rs754704335 CA1147400	374	K>N		No	ClinGen ExAC gnomAD
rs1243995064 CA342738220	377	G>S		No	ClinGen TOPMed
CA1147399 rs751265406	378	S>P		No	ClinGen ExAC gnomAD
rs1365092555 CA342738131	379	T>S		No	ClinGen gnomAD
CA1147398 rs779812452	382	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA1147396 rs749890726	391	I>T		No	ClinGen ExAC TOPMed gnomAD
rs371047526 CA1147397	391	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs377644518 CA1147395	392	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs762446404 CA1147394	393	A>T		No	ClinGen ExAC gnomAD
CA342737445 rs1170105970	397	M>T		No	ClinGen gnomAD
rs1421490688 CA342737467	397	M>V		No	ClinGen gnomAD
CA1147392 rs754291047	401	N>D		No	ClinGen ExAC gnomAD
rs764571500 CA1147391	402	K>T		No	ClinGen ExAC gnomAD
rs1477943025 CA342737184	404	I>M		No	ClinGen gnomAD
rs1233950071 CA342737178	405	G>V		No	ClinGen gnomAD
rs760921805 CA1147390	408	L>P		No	ClinGen ExAC gnomAD
rs1419725213 CA342737039	408	L>V		No	ClinGen TOPMed
rs374946399 CA1147389	409	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456825817 CA342736992	409	M>T		No	ClinGen gnomAD
CA342737000 rs1407252048	409	M>V		No	ClinGen gnomAD
CA1147388 rs370375387	412	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370375387 CA30915358	412	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA342736798 rs1337080349	413	L>S		No	ClinGen TOPMed
CA1147386 rs774349654	414	A>V		No	ClinGen ExAC gnomAD
CA342736687 rs1217253245	416	L>V		No	ClinGen gnomAD
rs770995350 CA1147385	417	I>L		No	ClinGen ExAC TOPMed gnomAD
rs748164062 CA1147384	417	I>S		No	ClinGen ExAC gnomAD
rs1398058487 CA342736618	418	S>G		No	ClinGen gnomAD
CA1147382 rs768527981	421	A>V		No	ClinGen ExAC gnomAD
CA1147381 rs746732050	422	I>M		No	ClinGen ExAC gnomAD
rs1471533018 CA342736446	422	I>V		No	ClinGen Ensembl
CA1147379 rs146518998	427	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1147378 rs376982700	428	A>P		No	ClinGen ESP ExAC gnomAD
CA30915315 rs376982700	428	A>T		No	ClinGen ESP ExAC gnomAD
rs1409082408 CA342736193	428	A>V		No	ClinGen gnomAD
rs1180928641 CA342736154	431	P>A		No	ClinGen gnomAD
CA342736149 rs1180928641	431	P>S		No	ClinGen gnomAD
CA342736094 rs1438329330	432	T>I		No	ClinGen TOPMed gnomAD
rs1177433453 CA342736041	433	Q>H		No	ClinGen TOPMed gnomAD
CA1147377 rs778627419	433	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA342736048 rs778627419	433	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1147376 rs756702506	435	P>L		No	ClinGen ExAC TOPMed gnomAD
CA342736001 rs756702506	435	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA342735793 rs1232468453	439	S>F		No	ClinGen TOPMed
rs1480102128 CA342735758	440	C>F		No	ClinGen TOPMed
RCV000961304 CA1147373 rs114218266	440	C>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA342735760 rs1480102128	440	C>Y		No	ClinGen TOPMed
rs753001647 CA342735721	441	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1311284131 CA342735746	441	S>R		No	ClinGen gnomAD
rs753001647 CA1147372	441	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1147371 rs767733447	442	T>A		No	ClinGen ExAC gnomAD
CA1147370 rs759821978	442	T>R		No	ClinGen ExAC gnomAD
rs774532991 CA1147369	443	N>D		No	ClinGen ExAC TOPMed gnomAD
CA342735629 rs1463842305	444	I>V		No	ClinGen TOPMed
rs1453452133 CA342735608	445	N>S		No	ClinGen TOPMed gnomAD
rs1246745250 CA342735587	446	N>D		No	ClinGen TOPMed gnomAD
CA342735582 rs1381351552	446	N>I		No	ClinGen gnomAD
CA342735573 rs1465692680	447	Q>E		No	ClinGen gnomAD
CA1147367 rs762901137	448	E>Q		No	ClinGen ExAC gnomAD
rs781677140 CA30915255	450	Q>H		No	ClinGen Ensembl
CA342735456 rs1160801068	451	E>K		No	ClinGen gnomAD
rs572979146 CA1147366	453	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1553266149 CA342735352	454	E>K		No	ClinGen Ensembl
rs775489754 CA1147363	458	D>G		No	ClinGen ExAC gnomAD
CA342735156 rs1344321884	459	S>G		No	ClinGen TOPMed
CA1147362 rs771976082	459	S>T		No	ClinGen ExAC gnomAD
rs745568387 CA1147361	461	T>I		No	ClinGen ExAC TOPMed gnomAD
rs745568387 CA342735103	461	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1218517024 CA342735026	463	K>R		No	ClinGen gnomAD
rs1351311827 CA342735003	464	T>N		No	ClinGen gnomAD
rs778680601 CA1147360	465	F>C		No	ClinGen ExAC gnomAD
CA342734815 rs1326130586	468	N>S		No	ClinGen TOPMed
CA30915209 rs955133017	471	R>Q		No	ClinGen gnomAD
CA1147358 rs756828098	471	R>W		No	ClinGen ExAC TOPMed gnomAD
CA30915199 rs560144458	472	Q>H		No	ClinGen TOPMed gnomAD
rs1199034333 CA342734513	475	E>A		No	ClinGen gnomAD
CA1147356 rs778359125	475	E>Q		No	ClinGen ExAC gnomAD
rs753199844 CA1147354	480	K>N		No	ClinGen ExAC gnomAD
rs757555287 CA30915182	484	R>G		No	ClinGen Ensembl
CA1147352 rs191549375	484	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342734169 rs1162059029	485	K>E		No	ClinGen gnomAD
rs1476734926 CA342734040	488	I>M		No	ClinGen TOPMed
CA1147349 rs763106616	489	N>D		No	ClinGen ExAC gnomAD
CA342733896 rs1487104252	491	E>G		No	ClinGen gnomAD
CA1147347 rs765351539	494	M>I		No	ClinGen ExAC gnomAD
CA1147348 rs773095341	494	M>T		No	ClinGen ExAC gnomAD
CA1147346 rs760750750	496	N>S		No	ClinGen ExAC gnomAD
rs1185661298 CA342733536	499	T>A		No	ClinGen TOPMed
CA342733529 rs1263651897	499	T>R		No	ClinGen gnomAD
rs1244153690 CA342733504	500	C>R		No	ClinGen gnomAD
CA30915120 rs536265639	500	C>Y		No	ClinGen 1000Genomes gnomAD
CA30915112 rs961316255	503	Q>E		No	ClinGen Ensembl
rs1570942843 CA342733302	503	Q>P		No	ClinGen Ensembl
CA342733149 rs1280179227	506	F>L		No	ClinGen gnomAD
CA1147344 rs772036994	508	S>P		No	ClinGen ExAC gnomAD
CA1147342 rs774080483	512	G>V		No	ClinGen ExAC gnomAD
rs570668202 CA30915092	514	Y>C		No	ClinGen gnomAD
rs570668202 CA342732881	514	Y>S		No	ClinGen gnomAD
CA342732867 rs1462959610	515	E>*		No	ClinGen gnomAD
rs1476607329 CA342732752	519	H>L		No	ClinGen TOPMed gnomAD
CA342732751 rs1476607329	519	H>R		No	ClinGen TOPMed gnomAD
rs755638760 CA342732720	520	E>G		No	ClinGen ExAC gnomAD
CA342732729 rs1199266790	520	E>K		No	ClinGen gnomAD
rs755638760 CA1147338	520	E>V		No	ClinGen ExAC gnomAD
rs781634198 CA1147334	521	K>N		No	ClinGen ExAC gnomAD
CA526669466 rs1260024322	522	Q>*		No	ClinGen gnomAD
rs143322824 CA1147333	524	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1147332 rs751864310	525	V>A		No	ClinGen ExAC gnomAD
CA1147330 rs758611306	526	Y>C		No	ClinGen ExAC gnomAD
rs766624641 CA1147331	526	Y>H		No	ClinGen ExAC gnomAD
rs764247635 COSM1245562 CA1147328	530	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1147327 rs764247635	530	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1347867326 CA342732392	533	K>N		No	ClinGen TOPMed
CA342732404 rs1304314961	533	K>Q		No	ClinGen TOPMed
rs1558151931 CA342732395	533	K>R		No	ClinGen Ensembl
rs767517300 CA1147325	534	M>I		No	ClinGen ExAC TOPMed gnomAD
CA30915030 rs375895779	536	G>V		No	ClinGen ESP TOPMed gnomAD
rs773950541 CA1147323	537	A>T		No	ClinGen ExAC gnomAD
rs770756936 CA1147322	537	A>V		No	ClinGen ExAC gnomAD
rs1328508381 CA342732278	540	V>A		No	ClinGen gnomAD
CA1147320 rs772900824	543	A>T		No	ClinGen ExAC gnomAD
RCV000782072 rs1558151861	544	K>missing		No	ClinVar dbSNP
rs377014653 CA1147319	545	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747606454 CA1147318	545	S>Y		No	ClinGen ExAC gnomAD
CA342732215 rs1176855909	546	P>S		No	ClinGen gnomAD
CA342732181 rs1558151809	548	S>G		No	ClinGen Ensembl
rs1057073115 CA30914974	550	V>I		No	ClinGen Ensembl
CA1147315 rs747542460	551	G>E		No	ClinGen ExAC gnomAD
rs1558151783 CA342732134	551	G>R		No	ClinGen Ensembl
CA342732055 rs1241387057	553	S>N		No	ClinGen gnomAD
rs780336941 CA1147314	554	N>S		No	ClinGen ExAC
CA342731981 rs1379716592	556	P>L		No	ClinGen gnomAD
rs1426506387 CA342731993	556	P>S		No	ClinGen gnomAD
CA1147313 rs138929794	558	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1334600109 CA342731928	559	S>L		No	ClinGen gnomAD
rs1334249622 CA342731911 COSM1737509	561	T>A	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA342731865 rs1397368595	562	V>A		No	ClinGen gnomAD
CA1147311 rs750654360	566	P>T		No	ClinGen ExAC gnomAD
rs549060368 CA1147310	569	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA342731717 rs1156708971	569	R>S		No	ClinGen gnomAD
CA30914933 rs913068691	570	S>R		No	ClinGen TOPMed
rs757438960 CA1147309	572	P>A		No	ClinGen ExAC gnomAD
rs767566687 CA1147307	573	E>A		No	ClinGen ExAC gnomAD
rs112249223 CA1147306	575	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342731582 rs1179779619	577	Q>P		No	ClinGen TOPMed
rs766139069 CA1147305	579	A>S		No	ClinGen ExAC TOPMed gnomAD
rs766139069 CA1147304	579	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1444957398 CA342731531	580	P>S		No	ClinGen TOPMed gnomAD
CA342731512 rs1284342559	581	N>K		No	ClinGen gnomAD
rs902649033 CA342731435	586	S>N		No	ClinGen TOPMed gnomAD
CA30914897 rs902649033	586	S>T		No	ClinGen TOPMed gnomAD
CA1147302 rs772760684	587	S>F		No	ClinGen ExAC gnomAD
rs769378000 CA1147301 RCV001200369	588	T>A		No	ClinGen ClinVar ExAC TOPMed dbSNP
CA1147300 rs761316149	588	T>I		No	ClinGen ExAC gnomAD
rs769378000 CA342731396	588	T>S		No	ClinGen ExAC TOPMed
rs776186075 CA1147299	589	T>A		No	ClinGen ExAC gnomAD
COSM279000 CA30914881 rs867128307	593	E>K	large_intestine endometrium breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA30914877 rs866538061	594	E>D		No	ClinGen gnomAD
rs772357063 CA1147295	599	V>I		No	ClinGen ExAC gnomAD
CA1147294 rs746197709	600	G>V		No	ClinGen ExAC gnomAD
rs367624434 CA342731037	602	N>K		No	ClinGen ESP TOPMed
CA30914850 rs367624434	602	N>K		No	ClinGen ESP TOPMed
rs141448773 CA1147293	604	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1147292 rs757492151	605	T>I		No	ClinGen ExAC TOPMed gnomAD
CA342730966 rs757492151	605	T>N		No	ClinGen ExAC TOPMed gnomAD
CA342730965 rs757492151	605	T>S		No	ClinGen ExAC TOPMed gnomAD
CA1147291 rs754109654	608	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1147290 rs149565722	608	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342730857 rs1361602820	609	T>I		No	ClinGen TOPMed
rs1158515328 CA342730840	610	H>R		No	ClinGen TOPMed
CA30914835 rs376384988	610	H>Y		No	ClinGen ESP
CA1147287 rs766289374	613	V>I		No	ClinGen ExAC TOPMed gnomAD
CA342730677 rs1353579493	615	H>D		No	ClinGen TOPMed gnomAD
rs1353579493 CA342730666	615	H>Y		No	ClinGen TOPMed gnomAD
rs762667748 CA1147286	617	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1342010354 CA342730600	618	V>A		No	ClinGen gnomAD
rs1218824264 CA342730606	618	V>I		No	ClinGen TOPMed gnomAD
rs1218824264 CA342730601	618	V>L		No	ClinGen TOPMed gnomAD
rs752916707 CA342730563	620	H>P		No	ClinGen gnomAD
rs752916707 CA30914761	620	H>R		No	ClinGen gnomAD
COSM341815 rs1325508418 CA342730473	622	I>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1403546521 CA342730443	623	S>N		No	ClinGen gnomAD
rs765011248 CA1147283	624	I>F		No	ClinGen ExAC TOPMed gnomAD
rs761507922 CA1147282	624	I>T		No	ClinGen ExAC TOPMed gnomAD
CA342730307 rs1478912758	626	C>Y		No	ClinGen gnomAD
rs1379405043 CA342730295	627	K>E		No	ClinGen TOPMed gnomAD
rs1570941501 RCV001008914	628	G>missing		No	ClinVar dbSNP
rs776241063 CA1147281	628	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1193391187 CA342730198	629	I>T		No	ClinGen TOPMed gnomAD
CA1147280 rs763631715	630	D>G		No	ClinGen ExAC gnomAD
CA342730057 rs1248837129	633	V>I		No	ClinGen gnomAD
rs1198775988 CA342729934	636	S>L		No	ClinGen TOPMed gnomAD
CA342729953 rs1271939125	636	S>T		No	ClinGen gnomAD
rs775887424 CA1147278	639	T>A		No	ClinGen ExAC gnomAD
rs772576010 CA1147277	640	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA342729689 rs1436750327	644	P>Q		No	ClinGen TOPMed
CA342729684 rs1181814282	645	R>G		No	ClinGen TOPMed
CA342729678 rs1233977039	645	R>K		No	ClinGen TOPMed
CA1147276 rs374322359	646	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs774922908 CA1147275	647	S>N		No	ClinGen ExAC gnomAD
CA1147273 rs200142426	650	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1147274 rs200142426	650	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1147270 rs748200422	651	G>E		No	ClinGen ExAC gnomAD
rs756167866 CA1147272	651	G>R		No	ClinGen ExAC gnomAD
CA1147271 rs756167866	651	G>R		No	ClinGen ExAC gnomAD
rs1398362760 CA342729451	653	K>T		No	ClinGen gnomAD
rs552238287 CA30914693	654	P>Q		No	ClinGen Ensembl
rs891662771 CA30914703	654	P>S		No	ClinGen TOPMed
CA30914679 rs933128504	658	S>F		No	ClinGen TOPMed
rs1329691028 CA342729244	660	S>C		No	ClinGen TOPMed
CA1147266 rs765062084	662	I>V		No	ClinGen ExAC gnomAD
CA342729142 rs757011864	663	H>L		No	ClinGen ExAC TOPMed gnomAD
CA1147265 rs757011864	663	H>R		No	ClinGen ExAC TOPMed gnomAD
rs921875925 CA30914648	665	I>M		No	ClinGen TOPMed gnomAD
CA1147264 rs753517242	665	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763690866 CA1147263	667	P>R		No	ClinGen ExAC gnomAD
rs975033802 CA30914625	667	P>S		No	ClinGen TOPMed gnomAD
rs1024108484 CA30914621	668	S>T		No	ClinGen TOPMed gnomAD
CA342728984 rs1312441359	669	V>I		No	ClinGen gnomAD
rs1338275195 CA342728903	671	N>K		No	ClinGen TOPMed
CA342728880 rs1280413950	672	F>S		No	ClinGen gnomAD
CA1147261 rs775001640	673	T>P		No	ClinGen ExAC TOPMed gnomAD
CA342728828 rs1309962353	674	S>N		No	ClinGen gnomAD
rs1448923746 CA342728682	676	F>L		No	ClinGen gnomAD
CA1147260 rs760147359	677	S>G		No	ClinGen ExAC gnomAD
CA1147259 rs760147359	677	S>R		No	ClinGen ExAC gnomAD
rs1297716114 CA342728628	678	N>S		No	ClinGen gnomAD
CA30914613 rs1012336580	680	P>S		No	ClinGen Ensembl
rs1448973615 CA342728401	683	K>R		No	ClinGen gnomAD
CA342728353 rs1158758386	685	G>C		No	ClinGen gnomAD
rs774980177 CA1147258	686	A>G		No	ClinGen ExAC gnomAD
rs961117564 CA30914609	689	A>V		No	ClinGen TOPMed
CA342728157 rs1381455064	690	S>L		No	ClinGen TOPMed gnomAD
rs771465078 CA1147256	691	D>N		No	ClinGen ExAC gnomAD
rs749632908 CA1147255	692	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1147252 rs748310093	693	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA1147254 rs773579792	693	H>R		No	ClinGen ExAC TOPMed gnomAD
rs559150180 CA1147251	696	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1147249 rs745844905	700	L>P		No	ClinGen ExAC gnomAD
CA30914546 rs950456160	701	S>N		No	ClinGen TOPMed gnomAD
CA1147248 rs778781268	702	T>N		No	ClinGen ExAC gnomAD
rs373541909 CA1147247	703	S>G		No	ClinGen ESP ExAC gnomAD
CA1147245 rs755862656	714	G>E		No	ClinGen ExAC gnomAD
CA1147244 rs755862656	714	G>V		No	ClinGen ExAC gnomAD
CA342727248 rs1422768496	716	K>N		No	ClinGen TOPMed
rs752283029 CA1147243	718	R>Q		No	ClinGen ExAC gnomAD
CA342727145 rs1302502225	720	T>A		No	ClinGen TOPMed
CA342727077 rs1300464948	722	V>G		No	ClinGen gnomAD
CA342727103 rs1361495286	722	V>M		No	ClinGen gnomAD
rs1363775158 CA342727069	723	V>M		No	ClinGen gnomAD
rs765574300 CA30914525	725	R>G		No	ClinGen Ensembl
rs1024650705 CA30914522	726	S>N		No	ClinGen TOPMed gnomAD
rs758941773 CA1147240	727	T>A		No	ClinGen ExAC gnomAD
CA1147239 rs752145657	728	C>Y		No	ClinGen ExAC gnomAD
CA1147237 rs763411992	729	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773776136 CA1147236	731	P>R		No	ClinGen ExAC gnomAD
CA1147235 rs770038478	732	K>E		No	ClinGen ExAC gnomAD
RCV001171593 CA30914479 rs889968109	734	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA1147234 rs762143869	734	L>V		No	ClinGen ExAC gnomAD
rs1222376918 CA342726612	740	E>A		No	ClinGen gnomAD
rs992356952 CA30914472	742	F>L		No	ClinGen TOPMed
CA1147232 rs768810492	745	V>I		No	ClinGen ExAC TOPMed gnomAD
CA342726466 rs768810492	745	V>L		No	ClinGen ExAC TOPMed gnomAD
CA342726445 rs1341385832	746	S>L		No	ClinGen gnomAD
rs770789015 CA1147229	747	C>R		No	ClinGen ExAC gnomAD
rs1294571630 CA342726363	749	S>L		No	ClinGen TOPMed gnomAD
CA1147227 rs777681770	751	S>L		No	ClinGen ExAC gnomAD
rs1064795921 RCV000484182	752	N>missing		No	ClinVar dbSNP
rs1428264795 CA342726299	752	N>S		No	ClinGen TOPMed
rs1162195478 CA342726279	753	S>N		No	ClinGen gnomAD
rs1474661781 CA342726264	754	N>D		No	ClinGen gnomAD
CA1147226 rs755844552	757	P>L		No	ClinGen ExAC gnomAD
rs1426582496 CA342726150	758	A>T		No	ClinGen TOPMed gnomAD
CA1147225 rs752438623	761	M>I		No	ClinGen ExAC gnomAD
rs540848565 CA1147224	763	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs540848565 CA1147223	763	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs751043920 CA1147222	765	G>R		No	ClinGen ExAC gnomAD
CA1147221 rs765980248	766	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1260301330 CA342725832	768	S>T		No	ClinGen gnomAD
CA342725789 rs200517731	769	F>S		No	ClinGen 1000Genomes gnomAD
CA30914398 rs200517731	769	F>Y		No	ClinGen 1000Genomes gnomAD
rs1356112820 CA342725761	770	V>A		No	ClinGen gnomAD
CA342725706 rs1326146382	772	H>N		No	ClinGen gnomAD
CA342725680 rs1162942621	773	D>V		No	ClinGen TOPMed
rs1388978790 CA342725665	774	F>Y		No	ClinGen gnomAD
rs150671158 COSM206759 CA1147219	777	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA1147218 RCV000972205 rs74353643	777	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs373475579 CA1147217	778	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1147216 rs776932701	779	L>W		No	ClinGen ExAC gnomAD
CA1147214 rs760749967	782	L>F		No	ClinGen ExAC TOPMed gnomAD
rs909776559 CA30914375	784	K>E		No	ClinGen TOPMed
CA30914370 rs903879713	784	K>R		No	ClinGen TOPMed gnomAD
CA1147213 rs775614745	785	S>F		No	ClinGen ExAC
CA1147212 rs139503226	786	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA342725059 rs1251107899	788	P>R		No	ClinGen gnomAD
CA342724967 rs1458222908	789	S>F		No	ClinGen gnomAD
rs769664729 CA1147209	791	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1147208 rs747851546	791	A>V		No	ClinGen ExAC TOPMed gnomAD
CA342724918 rs780899491	792	L>F		No	ClinGen ExAC TOPMed gnomAD
rs780899491 CA1147207	792	L>V		No	ClinGen ExAC TOPMed gnomAD
rs536133527 CA1147206	793	L>V		No	ClinGen ExAC TOPMed gnomAD
rs779755393 CA1147204	795	D>G		No	ClinGen ExAC gnomAD
CA1147205 rs779755393	795	D>V		No	ClinGen ExAC gnomAD
CA1147202 rs575594491	796	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs765611799 CA1147201	799	P>L		No	ClinGen ExAC gnomAD
rs1051143444 CA30914258	800	S>C		No	ClinGen TOPMed gnomAD
rs1376913338 CA342724514	801	H>R		No	ClinGen gnomAD
rs1156881276 CA342724474	802	K>R		No	ClinGen TOPMed
rs757651279 CA1147200	804	F>S		No	ClinGen ExAC gnomAD
CA1147199 rs774266652	806	T>A		No	ClinGen ExAC TOPMed gnomAD
rs764439561 CA342724288	807	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs34039531 CA342724248	809	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775667910 CA1147196	813	M>L		No	ClinGen ExAC gnomAD
rs1451516042 CA342724089	814	C>F		No	ClinGen TOPMed
CA342723991 rs1336952621	818	D>N		No	ClinGen TOPMed
CA30914225 rs960810256 COSM463109	821	S>P	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA30914220 rs1035127817	824	Y>C		No	ClinGen gnomAD
CA1147194 rs759498337	825	K>E		No	ClinGen ExAC gnomAD
CA342723630 rs1389133909	827	K>R		No	ClinGen TOPMed
rs773226898 CA1147193	829	G>R		No	ClinGen ExAC gnomAD
rs978063094 COSM896937 CA30914209	831	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1305498925 CA342723496	833	S>A		No	ClinGen TOPMed
rs1305498925 CA342723499	833	S>P		No	ClinGen TOPMed
CA1147192 rs373051450	834	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA342723455 rs1202526740	836	M>V		No	ClinGen gnomAD
CA342723418 rs1484864801	840	E>D		No	ClinGen gnomAD
CA342723398 rs1280074737	844	K>E		No	ClinGen TOPMed gnomAD
rs1162576893 CA342723382	846	T>S		No	ClinGen gnomAD
rs768545604 CA1147189	854	V>L		No	ClinGen ExAC gnomAD
CA30914155 rs372983225	856	S>C		No	ClinGen gnomAD
rs779812729 CA1147187	858	Q>R		No	ClinGen ExAC gnomAD
CA1147186 rs758003746	859	S>A		No	ClinGen ExAC gnomAD
CA1147185 rs745311605	863	Q>E		No	ClinGen ExAC gnomAD
rs1420207670 CA342723205	865	P>H		No	ClinGen gnomAD
rs532225764 CA1147184 RCV000994126	867	I>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs757773232 CA342723161	869	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA342723148 rs1369145097	870	P>L		No	ClinGen gnomAD
rs1028482291 CA30914103	875	P>L		No	ClinGen Ensembl
CA1147181 rs764491006	877	F>L		No	ClinGen ExAC gnomAD
rs756443929 CA1147180	878	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1217872164 CA342723041	879	Q>R		No	ClinGen TOPMed gnomAD
rs576854637 CA1147179	883	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1427006006 CA342722996	884	S>P		No	ClinGen TOPMed
rs868289176 CA30914095	885	P>L		No	ClinGen gnomAD
rs1036757061 CA30914090	894	K>N		No	ClinGen Ensembl
rs369732181 CA1147177	898	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs774359117 CA1147175	899	S>L		No	ClinGen ExAC gnomAD
rs1353230581 CA342722772	900	P>S		No	ClinGen gnomAD
rs373618299 CA1147173	902	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA342722670 rs1297156636	903	M>I		No	ClinGen TOPMed
rs746750891 CA1147170	906	P>L		No	ClinGen ExAC gnomAD
CA1147169 rs769292706	907	V>I		No	ClinGen ExAC gnomAD
rs769292706 CA342722551	907	V>L		No	ClinGen ExAC gnomAD
CA342722354 rs1411013151	914	V>A		No	ClinGen TOPMed
CA30913996 rs939657824	915	A>G		No	ClinGen gnomAD
CA342722331 rs939657824	915	A>V		No	ClinGen gnomAD
rs778346545 CA1147166	918	S>G		No	ClinGen ExAC gnomAD
CA342722249 rs1240734017	919	P>A		No	ClinGen gnomAD
rs1193050828 CA342722227	920	S>G		No	ClinGen gnomAD
CA1147164 rs749799276	925	E>A		No	ClinGen ExAC TOPMed gnomAD
CA342722071 rs749799276	925	E>G		No	ClinGen ExAC TOPMed gnomAD
CA30913947 rs749799276	925	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1344062605 CA342721912	929	H>R		No	ClinGen TOPMed
CA30913942 rs888117492	929	H>Y		No	ClinGen Ensembl
rs1332208973 CA342721764	932	S>N		No	ClinGen gnomAD
rs1272213652 CA342721712	933	S>N		No	ClinGen gnomAD
rs1363724661 CA342721662	934	D>G		No	ClinGen gnomAD
rs778217115 CA1147162	935	F>L		No	ClinGen ExAC gnomAD
rs1558149683 RCV000761682	936	F>missing		No	ClinVar dbSNP
rs1223214970 CA342718931	938	S>N		No	ClinGen TOPMed
CA1147160 rs753003745	939	E>K		No	ClinGen ExAC gnomAD
rs200870102 CA30913894	940	D>Y		No	ClinGen Ensembl
rs1327974045 CA342718792	942	L>F		No	ClinGen gnomAD
rs1327974045 CA342718805	942	L>I		No	ClinGen gnomAD
CA30913876 rs992284286	945	P>S		No	ClinGen TOPMed
CA1147157 rs751781147	946	D>G		No	ClinGen ExAC TOPMed gnomAD
CA342718633 rs1558149619	946	D>H		No	ClinGen Ensembl
CA342718572 rs1480989178	947	D>Y		No	ClinGen TOPMed
rs766405091 CA1147156	948	L>V		No	ClinGen ExAC gnomAD
CA342718429 rs1322587990	951	S>N		No	ClinGen gnomAD
CA30913861 rs926766251	952	H>R		No	ClinGen TOPMed gnomAD
rs753847418 CA1147154	954	P>S		No	ClinGen ExAC gnomAD
rs764064359 CA342718305	955	S>I		No	ClinGen ExAC gnomAD
rs764064359 CA1147153	955	S>N		No	ClinGen ExAC gnomAD
rs1478624418 CA342718321	955	S>R		No	ClinGen gnomAD
rs1194942356 CA342718258	957	C>Y		No	ClinGen gnomAD
rs149403989 CA1147152	958	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1147151 rs775491536	959	M>I		No	ClinGen ExAC gnomAD
rs766973764 CA30913822	960	S>N		No	ClinGen Ensembl
CA1147148 rs774023621	961	D>E		No	ClinGen ExAC TOPMed gnomAD
rs771889350 CA1147150	961	D>N		No	ClinGen ExAC gnomAD
rs759162526 CA1147149	961	D>V		No	ClinGen ExAC gnomAD
rs1021194966 CA30913818	966	P>S		No	ClinGen TOPMed
COSM400848 rs770382713 CA1147147	967	D>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1279458646 CA342717627	975	N>S		No	ClinGen gnomAD
CA30913798 rs745391588	979	M>I		No	ClinGen Ensembl
rs778268505 CA1147145	979	M>V		No	ClinGen ExAC gnomAD
CA342717285 rs1332151089	981	T>I		No	ClinGen gnomAD
rs928005562 CA30913797	982	I>V		No	ClinGen Ensembl
rs1292452383 CA342717209	983	I>L		No	ClinGen TOPMed gnomAD
CA1147143 rs548853139	984	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1187547460 COSM175033 CA342717139	984	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs755335545 CA1147141	985	K>N		No	ClinGen ExAC gnomAD
rs1415457603 CA342716967	988	K>E		No	ClinGen gnomAD
rs1570938414 CA342716830	990	K>R		No	ClinGen Ensembl
rs372042540 CA30913785	991	T>A		No	ClinGen ESP
CA30913757 rs1029784140	994	R>I		No	ClinGen TOPMed
rs751757324 CA1147139	995	K>Q		No	ClinGen ExAC gnomAD
rs1454244071 CA342716553	995	K>R		No	ClinGen gnomAD
CA1147138 rs145545651	996	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1458057614 CA342716541	996	K>Q		No	ClinGen gnomAD
CA1147137 rs758421570	998	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1147136 rs750460589	999	N>S		No	ClinGen ExAC gnomAD
RCV000994125 rs1570938260	1002	L>missing		No	ClinVar dbSNP
CA342716391 rs1427777130	1002	L>F		No	ClinGen gnomAD
CA1147135 rs765402822	1003	S>*		No	ClinGen ExAC gnomAD
RCV001254991 rs765402822	1003	S>L		No	ClinVar dbSNP
CA1147134 rs760754745	1004	S>G		No	ClinGen ExAC gnomAD
CA1147133 rs143107528	1006	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442730479 CA342716288	1006	V>I		No	ClinGen gnomAD
CA342716183 rs1231928957	1008	S>L		No	ClinGen gnomAD
CA342716177 rs1347122264	1009	S>G		No	ClinGen gnomAD
rs1479429061 CA342716061	1011	K>Q		No	ClinGen gnomAD
CA342715983 rs1225603380	1012	G>E		No	ClinGen gnomAD
CA1147132 rs767256816	1012	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201284846 CA1147131	1014	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1490181629 CA342715838	1017	K>R		No	ClinGen TOPMed
CA30913710 rs376401440	1018	L>F		No	ClinGen ESP TOPMed
CA30913711 rs376401440	1018	L>V		No	ClinGen ESP TOPMed
CA342715738 rs1474290126	1019	H>D		No	ClinGen TOPMed
CA30913708 rs1022300953	1019	H>R		No	ClinGen TOPMed gnomAD
rs954305578 CA30913701	1020	N>D		No	ClinGen Ensembl
rs762457065 CA1147128	1020	N>S		No	ClinGen ExAC gnomAD
rs372092485 CA1147127	1021	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1570937983 CA342715646	1022	V>G		No	ClinGen Ensembl
CA30913679 rs201251822	1022	V>I		No	ClinGen TOPMed gnomAD
rs201251822 CA342715653	1022	V>L		No	ClinGen TOPMed gnomAD
CA1147124 rs550340081	1024	S>G		No	ClinGen ExAC TOPMed gnomAD
rs747340435 CA1147122	1029	F>I		No	ClinGen ExAC gnomAD
CA1147121 rs780143723	1031	S>C		No	ClinGen ExAC gnomAD
CA342715261 rs1429009051	1034	G>S		No	ClinGen TOPMed
CA342715122 rs1485300512	1036	Q>H		No	ClinGen gnomAD
CA1147119 rs41313924	1037	I>V		No	ClinGen 1000Genomes ExAC
CA342714763 rs1217877365	1045	I>V		No	ClinGen gnomAD
rs1315133515 CA342714681	1047	I>V		No	ClinGen gnomAD
rs1202859516 CA342714518	1050	R>G		No	ClinGen gnomAD
rs757383645 CA1147117	1054	K>R		No	ClinGen ExAC gnomAD
CA342714250 rs1558148991	1057	T>S		No	ClinGen Ensembl
rs1414628062 CA342714148	1059	L>F		No	ClinGen gnomAD
CA1147115 rs767440517	1062	I>V		No	ClinGen ExAC gnomAD
rs754747021 CA1147114	1064	S>F		No	ClinGen ExAC gnomAD
CA1147113 rs751304371	1065	G>R		No	ClinGen ExAC gnomAD
CA342713873 rs1570937729	1066	S>R		No	ClinGen Ensembl
rs1342889149 CA342713845	1067	P>A		No	ClinGen gnomAD
rs766086158 CA1147112	1068	T>A		No	ClinGen ExAC gnomAD
rs762640004 CA1147111	1068	T>I		No	ClinGen ExAC gnomAD
CA342713790 rs1419660555	1069	S>I		No	ClinGen gnomAD
rs772817628 CA1147110	1071	A>P		No	ClinGen ExAC gnomAD
rs1474723198 CA342713313	1081	A>V		No	ClinGen TOPMed gnomAD
rs1188154959 CA342713305	1082	G>E		No	ClinGen gnomAD
rs1260201163 CA342713281	1083	S>T		No	ClinGen gnomAD
rs1214446325 CA342713266	1084	A>P		No	ClinGen gnomAD
CA1147108 rs761260687	1086	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1147107 rs150330814	1087	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1147106 rs367721790	1088	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA342713044 rs1298231296	1090	P>L		No	ClinGen gnomAD
rs747463993 CA1147105	1090	P>S		No	ClinGen ExAC gnomAD
rs772544464 CA1147103	1091	P>R		No	ClinGen ExAC TOPMed gnomAD
rs775979198 CA1147104	1091	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775979198 CA342713032	1091	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1553265416 CA342712902	1094	P>S		No	ClinGen Ensembl
CA1147102 rs746135067	1095	S>L		No	ClinGen ExAC gnomAD
rs757435158 CA1147100	1098	S>G		No	ClinGen ExAC gnomAD
CA1147099 rs749335458	1100	S>F		No	ClinGen ExAC gnomAD
CA342712644 rs1460620590	1100	S>T		No	ClinGen gnomAD
rs781001069 CA1147098	1101	E>G		No	ClinGen ExAC gnomAD
CA342712592 rs1426635046	1102	I>T		No	ClinGen gnomAD
rs755012717 CA1147097	1103	L>V		No	ClinGen ExAC gnomAD
CA1147096 rs144222545	1105	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA342712503 rs1466028599	1106	P>L		No	ClinGen TOPMed
CA342712513 rs766234228	1106	P>S		No	ClinGen ExAC gnomAD
CA1147095 rs766234228	1106	P>T		No	ClinGen ExAC gnomAD
rs140137038 CA1147094	1107	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342712386 rs1242046172	1109	S>C		No	ClinGen TOPMed
CA1147093 rs750094410	1110	Q>P		No	ClinGen ExAC gnomAD
CA1147092 rs764809432	1111	S>F		No	ClinGen ExAC gnomAD
rs1299908691 CA342712310	1112	S>T		No	ClinGen gnomAD
CA342712264 rs1225778787	1113	G>E		No	ClinGen gnomAD
CA342712262 rs1225778787	1113	G>V		No	ClinGen gnomAD
rs1304733952 CA342712161	1118	Q>E		No	ClinGen gnomAD
CA342712145 rs1237143525	1118	Q>R		No	ClinGen TOPMed gnomAD
rs1164377352 CA342712079	1120	P>L		No	ClinGen TOPMed
rs1416501226 CA342712068	1121	V>E		No	ClinGen TOPMed
rs1553265370 CA342711956	1125	A>V		No	ClinGen Ensembl
CA1147090 rs776271484	1126	G>A		No	ClinGen ExAC TOPMed gnomAD
CA342711938 rs776271484	1126	G>D		No	ClinGen ExAC TOPMed gnomAD
rs980028284 CA30913442	1126	G>S		No	ClinGen TOPMed
rs1396818506 CA342711900	1127	F>C		No	ClinGen gnomAD
rs763496981 CA1147089	1128	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1299668415 CA342711855	1128	V>I		No	ClinGen gnomAD
rs761292036 CA1147088	1130	P>R		No	ClinGen ExAC gnomAD
rs775830627 CA1147087	1132	S>L		No	ClinGen ExAC TOPMed gnomAD
rs201358541 CA1147084	1136	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342711511 rs1438603053	1138	L>S		No	ClinGen gnomAD
CA30913383 rs201558907	1139	H>R		No	ClinGen Ensembl
CA342711498 rs1570937081	1139	H>Y		No	ClinGen Ensembl
rs769727623 CA1147080	1142	Q>R		No	ClinGen ExAC gnomAD
CA1147079 rs373652820	1145	M>R		No	ClinGen ESP ExAC gnomAD
rs779914136 CA1147078	1146	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1300583762 CA342711113	1148	T>S		No	ClinGen gnomAD
CA342710983 rs371551723	1150	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1147076 rs371551723	1150	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM896932 CA1147077 rs371551723	1150	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1147075 rs778675004	1151	M>I		No	ClinGen ExAC TOPMed
CA30913349 rs996967444	1151	M>V		No	ClinGen TOPMed gnomAD
CA342710929 rs1335971223	1152	K>R		No	ClinGen gnomAD
CA342710726 rs1400697538	1156	K>R		No	ClinGen gnomAD
rs756989942 CA1147074	1158	R>G		No	ClinGen ExAC gnomAD
rs1389330606 CA342710618	1159	R>G		No	ClinGen gnomAD
rs753409136 CA1147073	1159	R>K		No	ClinGen ExAC gnomAD
rs202212390 CA342710582	1160	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1147071 rs202212390	1160	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145739954 CA1147072 COSM270810	1160	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA342710533 rs1173071909	1162	S>F		No	ClinGen gnomAD
CA342710508 rs1365609368	1163	P>L		No	ClinGen gnomAD
rs1470520097 CA342710522	1163	P>S		No	ClinGen gnomAD
CA342710476 rs1258625087	1164	P>R		No	ClinGen gnomAD
rs768080262 CA1147069	1164	P>S		No	ClinGen ExAC TOPMed gnomAD
rs199883908 CA30913316	1165	T>A		No	ClinGen 1000Genomes
CA1147067 rs199883908	1165	T>P		No	ClinGen 1000Genomes
CA342710442 rs199883908	1165	T>S		No	ClinGen 1000Genomes
CA1147066 rs759986414	1168	P>T		No	ClinGen ExAC gnomAD
CA1147064 rs771413624	1172	S>L		No	ClinGen ExAC TOPMed gnomAD
rs200632189 CA30913305	1173	H>Y		No	ClinGen 1000Genomes
rs769935449 CA1147061	1174	L>F		No	ClinGen ExAC TOPMed gnomAD
CA342710083 rs1262008831	1174	L>S		No	ClinGen gnomAD
rs1349549698 CA342710031	1176	E>V		No	ClinGen gnomAD
CA1147059 rs779967638	1177	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1147058 rs772062408	1178	T>I		No	ClinGen ExAC gnomAD
rs1333351934 CA342709923	1180	L>I		No	ClinGen TOPMed gnomAD
rs1333351934 CA342709917	1180	L>V		No	ClinGen TOPMed gnomAD
rs1401248987 CA342709897	1181	K>R		No	ClinGen gnomAD
CA1147056 rs778728357	1183	A>P		No	ClinGen ExAC gnomAD
CA1147054 rs753559811 COSM3740695	1184	T>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA342709776 rs1558148184	1185	P>A		No	ClinGen Ensembl
CA342709779 rs1558148184	1185	P>T		No	ClinGen Ensembl
CA30913280 COSM110503 rs138699800	1186	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs767133428 CA30913235	1188	I>M		No	ClinGen ExAC TOPMed gnomAD
CA30913247 rs752949764	1188	I>V		No	ClinGen gnomAD
rs752094425 CA1147048	1194	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1147047 rs766877793	1197	I>V		No	ClinGen ExAC gnomAD
rs1332354740 CA342709245 COSM896930	1215	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA342709238 rs1283401743	1216	K>E		No	ClinGen gnomAD
CA342709229 rs1431354298	1216	K>R		No	ClinGen gnomAD
CA1147044 rs765306089	1217	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1239124643 CA342709198	1218	C>R		No	ClinGen gnomAD
CA342709193 rs1553265223	1218	C>Y		No	ClinGen Ensembl
rs1253113312 CA342709146	1222	K>N		No	ClinGen TOPMed
rs915355980 CA30913198	1225	H>D		No	ClinGen TOPMed
rs1167288754 COSM69732 CA342709104	1227	F>S	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA30913197 rs937669808	1231	S>A		No	ClinGen TOPMed gnomAD
CA30913196 rs556471660	1234	P>L		No	ClinGen TOPMed gnomAD
CA342708936 rs1193115039	1235	P>A		No	ClinGen gnomAD
rs1409413641 CA342708902	1237	T>A		No	ClinGen TOPMed
rs768699585 CA1147040	1238	S>F		No	ClinGen ExAC gnomAD
rs1253115540 CA342708860	1239	T>I		No	ClinGen gnomAD
CA342708829 rs1288837763	1241	L>Q		No	ClinGen gnomAD
rs770783557 CA1147037	1243	S>N		No	ClinGen ExAC TOPMed gnomAD
rs748980447 CA1147036	1245	K>T		No	ClinGen ExAC gnomAD
rs777487663 CA1147035	1248	H>R		No	ClinGen ExAC gnomAD
rs989476227 CA30913160	1252	C>R		No	ClinGen Ensembl
rs1403009836 CA342708576	1252	C>Y		No	ClinGen TOPMed
COSM1334659 CA1147034 rs755792596	1254	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1147033 rs377320289 COSM3934123	1254	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1147032 rs377320289	1254	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377320289 CA342708545	1254	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349557908 CA342708513	1256	N>T		No	ClinGen TOPMed gnomAD
CA342708324 rs1168464146	1265	M>V		No	ClinGen gnomAD
CA342708279 rs1338214009	1267	R>K		No	ClinGen TOPMed
rs1395134849 CA342708152	1272	R>Q		No	ClinGen gnomAD
CA1147027 COSM1193141 rs750816124	1272	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs765619717 CA1147026	1273	K>Q		No	ClinGen ExAC gnomAD
rs185176385 CA1147025	1273	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1484362383 CA342708028	1276	Y>F		No	ClinGen TOPMed
CA1147024 rs776802029	1280	R>Q		No	ClinGen ExAC gnomAD
rs1232270481 CA342707745	1286	D>E		No	ClinGen gnomAD
CA30913128 rs759593844	1286	D>G		No	ClinGen ExAC TOPMed gnomAD
CA1147021 rs774286049	1286	D>N		No	ClinGen ExAC gnomAD
rs759593844 CA1147020	1286	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1280289463 CA342707729	1288	I>V		No	ClinGen gnomAD
CA1147017 rs769611609	1291	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1255998191 CA342707564	1295	I>V		No	ClinGen gnomAD
CA342707533 rs1435846951	1296	S>N		No	ClinGen gnomAD
rs780939439 CA1147015	1300	E>G		No	ClinGen ExAC gnomAD
CA1147014 rs754545144	1301	I>L		No	ClinGen ExAC TOPMed gnomAD
rs754545144 CA342707424	1301	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1147012 rs779608311	1302	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM206758 CA1147013 rs746450493	1302	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA342707332 rs1470973826	1305	H>Y		No	ClinGen gnomAD
CA342707316 rs758885213	1306	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1147010 rs148042875	1308	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1147009 rs765560386	1309	H>R		No	ClinGen ExAC TOPMed gnomAD
CA342707174 rs1558147519	1310	F>L		No	ClinGen Ensembl
CA30913056 rs922849089	1312	P>S		No	ClinGen TOPMed
rs757577741 CA1147008	1313	R>G		No	ClinGen ExAC gnomAD
CA1147007 rs369029306 COSM3418119	1313	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1357770890 CA342706964	1315	L>F		No	ClinGen gnomAD
rs1357770890 CA342706984	1315	L>I		No	ClinGen gnomAD
rs770417334 CA30913033	1316	L>P		No	ClinGen Ensembl
rs760749906 CA1147005	1319	I>V		No	ClinGen ExAC TOPMed gnomAD
CA342706750 COSM896928 rs1358026443	1321	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs748785901 CA30913025	1322	I>S		No	ClinGen Ensembl
rs1159264481 CA342706731	1322	I>V		No	ClinGen gnomAD
CA342706559 rs1402053209	1325	N>S		No	ClinGen gnomAD
rs761305452 CA30913019	1326	S>G		No	ClinGen Ensembl
CA1147002 rs762849940	1327	F>L		No	ClinGen ExAC TOPMed gnomAD
rs773173877 CA1147001	1328	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1146999 rs761640241	1334	P>R		No	ClinGen ExAC gnomAD
rs1218116305 CA342706012	1337	P>R		No	ClinGen gnomAD
CA342705950 rs1267676324	1339	H>R		No	ClinGen gnomAD
CA342705863 rs746644416	1342	R>G		No	ClinGen ExAC gnomAD
rs779477897 CA1146995	1342	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1146994 rs761812355	1346	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1363327637 CA342705734	1347	K>R		No	ClinGen gnomAD
CA342705642 rs1442806139	1351	G>E		No	ClinGen TOPMed
rs569755252 CA1146993	1353	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs896413441 CA30912974	1354	P>L		No	ClinGen TOPMed gnomAD
rs1432354760 CA342705595	1354	P>T		No	ClinGen gnomAD
CA1146991 rs757633171	1359	A>G		No	ClinGen ExAC gnomAD
rs754135049 CA1146990	1360	M>T		No	ClinGen ExAC TOPMed gnomAD
CA342705212 rs1420205530	1365	F>Y		No	ClinGen gnomAD
rs1188215341 CA342705198	1366	M>V		No	ClinGen gnomAD
CA342705038 rs1214504816	1371	F>V		No	ClinGen gnomAD
rs752945605 CA1146987	1371	F>Y		No	ClinGen ExAC gnomAD
COSM110349 rs150279906 CA30912939	1372	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA342704991 rs1244609421	1373	L>V		No	ClinGen gnomAD
CA1146985 rs767536880	1374	S>P		No	ClinGen ExAC gnomAD
rs1387598679 CA342704954	1375	S>N		No	ClinGen TOPMed
rs149859780 CA1146984	1377	G>A		No	ClinGen ESP ExAC gnomAD
CA30912906 rs1002787644	1379	Y>C		No	ClinGen Ensembl
rs1296291741 CA342704800	1380	P>A		No	ClinGen gnomAD
CA342704718 rs1457168130	1383	G>S		No	ClinGen gnomAD
CA30912905 rs199571875	1385	P>R		No	ClinGen 1000Genomes
CA1146980 rs776623266	1390	P>S		No	ClinGen ExAC gnomAD
COSM1197284 CA1146978 rs200342675	1391	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200342675 CA1146979	1391	L>V		No	ClinGen ExAC TOPMed gnomAD
rs532774270 CA1146976	1396	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA1146975 rs745327064	1396	I>M		No	ClinGen ExAC gnomAD
CA342704280 rs1265610352	1397	G>E		No	ClinGen gnomAD
rs771496177 CA1146973	1401	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA342704066 rs1203599864	1404	Y>D		No	ClinGen gnomAD
CA342704073 rs1203599864	1404	Y>H		No	ClinGen gnomAD
CA1146972 rs749783859	1405	P>L		No	ClinGen ExAC gnomAD
rs1234457199 CA342703982	1407	T>I		No	ClinGen TOPMed gnomAD
CA1146971 rs778162199	1407	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1146970 rs372767607	1408	L>V		No	ClinGen ESP ExAC gnomAD
CA1146968 rs781430604	1409	Y>F		No	ClinGen ExAC gnomAD
rs752898069 CA1146969	1409	Y>H		No	ClinGen ExAC gnomAD
rs755013684 CA1146967	1412	P>L		No	ClinGen ExAC gnomAD
CA342703858 rs755013684	1412	P>R		No	ClinGen ExAC gnomAD
CA1146964 rs766551438	1419	T>A		No	ClinGen ExAC gnomAD
CA1146963 rs146335789	1419	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001091729 rs1665735919	1422	P>S		No	ClinVar dbSNP
rs768487385 CA30912766	1426	Y>C		No	ClinGen TOPMed
CA342703494 rs1558146829	1427	M>V		No	ClinGen Ensembl
CA1146960 rs760468382	1433	L>I		No	ClinGen ExAC gnomAD
CA342703323 rs760468382	1433	L>V		No	ClinGen ExAC gnomAD
CA1146959 rs367688627 RCV001254956	1435	N>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA342703173 rs1410987789	1438	K>N		No	ClinGen TOPMed
rs767131555 CA1146958	1440	H>R		No	ClinGen ExAC gnomAD
CA342702972 rs1281598814	1443	K>N		No	ClinGen gnomAD
CA1146957 rs759107318	1444	H>R		No	ClinGen ExAC gnomAD
CA30912761 rs965588842	1446	L>V		No	ClinGen Ensembl
CA1146956 rs773910429	1448	R>*		No	ClinGen ExAC gnomAD
CA30912756 rs144936221	1448	R>Q		No	ClinGen 1000Genomes
CA30912755 rs908823813	1450	E>D		No	ClinGen Ensembl
rs770406846 CA1146955	1451	A>T		No	ClinGen ExAC gnomAD
CA1146954 rs749837623	1451	A>V		No	ClinGen ExAC gnomAD
rs189590412 CA1146952	1454	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000917020 rs189590412 CA1146953	1454	T>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA342702610 rs1289978607	1455	T>S		No	ClinGen gnomAD
CA30912729 rs975656554	1456	S>R		No	ClinGen TOPMed gnomAD
CA1146950 rs755282652	1460	L>F		No	ClinGen ExAC gnomAD
CA1146948 rs747175311	1460	L>H		No	ClinGen ExAC TOPMed gnomAD
CA1146949 rs755282652	1460	L>V		No	ClinGen ExAC gnomAD
rs753849025 CA1146945	1461	L>F		No	ClinGen ExAC gnomAD
rs1398351579 CA342702493	1461	L>P		No	ClinGen TOPMed
CA342702483 rs371385666	1462	S>A		No	ClinGen ESP ExAC gnomAD
CA1146944 rs371385666	1462	S>P		No	ClinGen ESP ExAC gnomAD
CA342702424 rs1258691933	1463	M>I		No	ClinGen gnomAD
CA342702458 rs1472429989	1463	M>V		No	ClinGen gnomAD
rs984193480 CA30912704	1465	T>A		No	ClinGen TOPMed
rs767205521 CA1146941	1466	Y>S		No	ClinGen ExAC gnomAD
rs951479303 CA30912698	1469	V>D		No	ClinGen TOPMed
rs775146432 CA1146940	1469	V>I		No	ClinGen ExAC gnomAD
CA1146938 rs765907525	1470	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1146939 rs765907525	1470	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773726574 CA1146936	1471	P>S		No	ClinGen ExAC gnomAD
rs770395391 CA1146935	1475	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA342702024 rs1293706086	1476	G>D		No	ClinGen gnomAD
CA1146934 rs748586061	1480	E>G		No	ClinGen ExAC gnomAD
CA342701858 rs1484248989	1481	H>P		No	ClinGen TOPMed
CA342701805 rs1338695487	1483	H>R		No	ClinGen gnomAD
rs768868132 CA1146932	1486	R>C		No	ClinGen ExAC gnomAD
COSM896926 CA30912686 rs769366641	1486	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1280985162 CA342701644	1490	R>G		No	ClinGen Ensembl
CA1146931 COSM896925 rs747263928	1493	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1146930 rs184705228	1493	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342701473 rs1341846610	1498	P>R		No	ClinGen TOPMed
rs758564340 CA1146928	1499	Q>R		No	ClinGen ExAC gnomAD
rs1382697913 CA342701436	1500	V>F		No	ClinGen gnomAD
CA30912671 rs1013082535	1501	S>F		No	ClinGen Ensembl
rs138098710 CA1146927	1502	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779131330 CA1146926	1503	D>E		No	ClinGen ExAC gnomAD
CA342701335 rs1558146388	1504	T>N		No	ClinGen Ensembl
rs1206387032 CA342701250	1507	S>C		No	ClinGen gnomAD
CA342701244 rs1344363331	1508	R>G		No	ClinGen Ensembl
CA342701230 rs1464200331	1508	R>Q		No	ClinGen TOPMed gnomAD
rs193002134 CA30912653	1510	V>I		No	ClinGen 1000Genomes
rs1273573475 CA342701179	1512	E>K		No	ClinGen gnomAD
rs756136250 CA1146925	1513	S>C		No	ClinGen ExAC gnomAD
rs1002567758 CA30912633	1516	R>C		No	ClinGen Ensembl
CA1146924 rs370694359 COSM1183763	1516	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs370694359 CA342701076	1516	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146923 rs142808913	1518	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146922 rs754691861	1518	R>S		No	ClinGen ExAC gnomAD
CA1146921 rs751238401	1526	E>G		No	ClinGen ExAC gnomAD
RCV000760624 CA342700868 rs1558146278	1527	R>*		No	ClinGen ClinVar Ensembl dbSNP
rs201281000 CA1146920	1527	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762459057 CA1146919	1528	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1146918 rs780654679	1530	H>L		No	ClinGen ExAC TOPMed gnomAD
CA342700732 rs780654679	1530	H>R		No	ClinGen ExAC TOPMed gnomAD
rs147990942 CA1146917	1531	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146915 rs776962103	1534	H>P		No	ClinGen ExAC TOPMed gnomAD
CA1146913 rs563815033	1535	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1146911 rs545474588	1535	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545474588 CA1146912	1535	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1186194758 CA342700468	1538	M>L		No	ClinGen gnomAD
CA342700415 rs1570933608	1539	S>A		No	ClinGen Ensembl
CA1146910 rs772489556	1540	C>F		No	ClinGen ExAC TOPMed gnomAD
CA30912599 rs746075431	1540	C>W		No	ClinGen ExAC TOPMed gnomAD
CA342700336 rs1390249629	1541	P>A		No	ClinGen TOPMed
COSM1498596 CA342700297 rs1041673153	1542	H>P	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1223315878 CA342700291	1542	H>Q		No	ClinGen TOPMed gnomAD
CA30912594 rs1041673153	1542	H>R		No	ClinGen TOPMed
CA342700318 COSM1626485 rs1426015745	1542	H>Y	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA342700280 rs1215251302	1543	L>F		No	ClinGen gnomAD
rs748149749 CA1146906	1548	S>N		No	ClinGen ExAC gnomAD
RCV000513370 rs1553264873	1551	N>missing		No	ClinVar dbSNP
rs780945877 CA1146905	1552	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1227842390 CA342699864	1552	R>K		No	ClinGen gnomAD
CA342699832 rs1371834701	1552	R>S		No	ClinGen gnomAD
CA342699808 rs1276764709	1553	E>*		No	ClinGen gnomAD
rs377593036 CA342699797	1553	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs751293474 CA1146903	1554	E>D		No	ClinGen ExAC
CA342699700 rs1330841190	1555	Q>H		No	ClinGen gnomAD
rs770465963 CA30912580	1555	Q>R		No	ClinGen TOPMed gnomAD
rs1050320026 CA30912577	1556	W>C		No	ClinGen TOPMed gnomAD
rs1168521302 CA342699580	1557	V>D		No	ClinGen gnomAD
CA1146902 rs779807772	1558	H>R		No	ClinGen ExAC gnomAD
CA1146900 rs373611754	1559	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558145937 CA342699412	1562	S>L		No	ClinGen Ensembl
rs1245880224 CA342699361	1564	S>T		No	ClinGen gnomAD
rs1182340932 CA342699331	1565	S>R		No	ClinGen gnomAD
CA1146899 rs369114138	1566	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs754380867 CA1146897	1568	A>G		No	ClinGen ExAC
rs1248225024 CA342699108	1573	T>A		No	ClinGen TOPMed
CA1146896 rs79294821	1573	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342699061 RCV000658525 rs1553264855	1574	P>S		No	ClinGen ClinVar Ensembl dbSNP
CA342698964 rs1217669780	1577	I>M		No	ClinGen gnomAD
rs761260026 CA1146895	1577	I>N		No	ClinGen ExAC gnomAD
rs1570933155 CA916316379	1578	D>*		No	ClinGen Ensembl
rs1399455880 CA342698804	1580	S>L		No	ClinGen gnomAD
CA30912555 rs899944183	1581	E>G		No	ClinGen gnomAD
rs772542868 CA1146893	1582	S>R		No	ClinGen ExAC gnomAD
CA342698724 rs1307913661	1583	S>F		No	ClinGen gnomAD
CA1146892 rs375740666	1585	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs774398204 CA1146891	1587	S>P		No	ClinGen ExAC gnomAD
rs1450749377 CA342698540	1588	L>V		No	ClinGen TOPMed
CA342698497 rs1177649673	1590	G>R		No	ClinGen TOPMed gnomAD
CA342698496 rs1177649673	1590	G>R		No	ClinGen TOPMed gnomAD
rs771067879 CA1146890 COSM236057	1590	G>V	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1290886393 CA342698390	1592	T>I		No	ClinGen Ensembl
rs1159466035 CA342698332	1594	N>I		No	ClinGen gnomAD
CA342698329 rs1159466035	1594	N>S		No	ClinGen gnomAD
rs1159466035 CA342698325	1594	N>T		No	ClinGen gnomAD
rs781198272 CA1146888	1595	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1570932904 CA342698259	1596	E>D		No	ClinGen Ensembl
rs768652214 CA1146887	1597	P>S		No	ClinGen ExAC gnomAD
CA1146886 rs72993485	1598	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA30912551 rs373441853	1601	D>G		No	ClinGen ESP
rs758146320 CA1146884	1601	D>N		No	ClinGen ExAC gnomAD
CA342698041 rs1366058163	1602	E>D		No	ClinGen TOPMed
CA342698030 rs1282367462	1603	H>L		No	ClinGen TOPMed
rs901332286 CA30912550	1603	H>Y		No	ClinGen TOPMed
rs745555463 CA1146883	1605	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1146881 rs756795480	1606	L>F		No	ClinGen ExAC gnomAD
rs753356004 CA1146880	1607	F>C		No	ClinGen ExAC gnomAD
CA342697899 rs1390312058	1608	T>I		No	ClinGen gnomAD
rs763693444 CA1146879	1609	S>R		No	ClinGen ExAC TOPMed gnomAD
CA342697814 rs1234401669	1611	I>T		No	ClinGen gnomAD
rs143731490 CA1146878	1611	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146877 rs753232834	1614	C>S		No	ClinGen ExAC gnomAD
CA1146876 rs151028549	1615	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342697661 rs1358076253	1617	S>*		No	ClinGen gnomAD
rs141092903 CA342695733	1621	S>C		No	ClinGen gnomAD
rs141092903 COSM106683 CA30912534	1621	S>F	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs548692300 CA30912529	1622	S>C		No	ClinGen TOPMed
rs548692300 CA30912527	1622	S>G		No	ClinGen TOPMed
rs1236383400 CA342695720	1622	S>T		No	ClinGen TOPMed
rs766450057 CA1146873	1624	R>G		No	ClinGen ExAC gnomAD
rs931459501 CA30912522	1624	R>Q		No	ClinGen gnomAD
rs766450057 CA1146874	1624	R>W		No	ClinGen ExAC gnomAD
rs1472783837 CA342695581	1630	S>G		No	ClinGen TOPMed
rs1182930683 CA342695524	1633	L>V		No	ClinGen TOPMed
rs1180047464 CA342695448	1634	F>S		No	ClinGen gnomAD
rs773209838 CA1146871	1637	Q>E		No	ClinGen ExAC gnomAD
CA1146870 rs769846462	1637	Q>L		No	ClinGen ExAC gnomAD
CA30912509 rs920085458	1639	T>I		No	ClinGen Ensembl
rs1455936390 CA342695344	1639	T>P		No	ClinGen TOPMed
rs1463744386 CA342695315	1641	L>I		No	ClinGen gnomAD
rs1463744386 CA342695307	1641	L>V		No	ClinGen gnomAD
CA342695260 rs1267885596	1642	N>I		No	ClinGen TOPMed gnomAD
CA1146868 rs201876504	1643	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1323894691 CA342695242	1643	R>Q		No	ClinGen gnomAD
CA1146869 COSM230883 rs201876504	1643	R>W	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA342695231 rs1474017903	1644	L>F		No	ClinGen gnomAD
rs745593782 CA1146866	1644	L>P		No	ClinGen ExAC gnomAD
CA342695184 rs1459007150	1645	H>Q		No	ClinGen TOPMed
CA342695189 rs1570932370	1645	H>R		No	ClinGen Ensembl
rs1332351165 CA342695171	1647	K>E		No	ClinGen TOPMed
CA1146865 rs758729368	1647	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1146864 rs756927393	1649	S>P		No	ClinGen ExAC gnomAD
CA1146863 rs748938694	1650	L>P		No	ClinGen ExAC gnomAD
rs755635578 CA1146861	1654	E>K		No	ClinGen ExAC TOPMed
CA342694871 rs1288736852	1658	Q>H		No	ClinGen TOPMed
rs1330857449 CA342694806	1660	L>S		No	ClinGen TOPMed
CA342694781 rs1422067129	1661	A>S		No	ClinGen TOPMed gnomAD
CA1146843 rs770736767	1665	P>T		No	ClinGen ExAC gnomAD
rs1041791225 CA30904619	1666	T>I		No	ClinGen Ensembl
CA342689068 rs1229275102	1668	D>N		No	ClinGen Ensembl
rs748914762 CA1146842	1669	K>N		No	ClinGen ExAC gnomAD
CA1146841 rs777525071	1670	P>R		No	ClinGen ExAC gnomAD
rs1435183079 CA342688982	1671	S>F		No	ClinGen gnomAD
CA30904595 rs914550877	1672	Q>R		No	ClinGen Ensembl
CA1146839 rs747601173	1673	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1146840 rs769430692 COSM1334654	1673	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA342688932 rs1483662754	1674	P>L		No	ClinGen gnomAD
CA342688900 rs1417858503	1676	E>A		No	ClinGen TOPMed
CA1146838 rs780832980	1677	S>N		No	ClinGen ExAC gnomAD
rs374117020 CA1146837	1677	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs932185500 CA30904578	1678	T>A		No	ClinGen Ensembl
rs189520322 CA1146836	1678	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233475684 CA342688795	1679	N>D		No	ClinGen gnomAD
CA1146835 rs780308394	1680	C>Y		No	ClinGen ExAC gnomAD
rs758753595 CA1146834 COSM3385239	1684	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1553260742 CA342688386	1690	E>Q		No	ClinGen Ensembl
CA1146832 rs756273158	1692	T>I		No	ClinGen ExAC TOPMed gnomAD
rs976781374 CA30904556	1693	S>T		No	ClinGen Ensembl
CA342688225 rs1303542858	1694	S>L		No	ClinGen gnomAD
CA342688197 rs1376200925	1695	T>A		No	ClinGen TOPMed gnomAD
CA30930213 rs536349969	1697	N>Y		No	ClinGen Ensembl
rs754036860 CA1146810	1698	G>E		No	ClinGen ExAC gnomAD
CA30930203 RCV000994124 rs765286358	1698	G>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1146811 rs765286358	1698	G>R		No	ClinGen ExAC TOPMed gnomAD
rs764103244 CA1146809	1700	P>T		No	ClinGen ExAC gnomAD
rs1230177899 CA342693604	1701	S>C		No	ClinGen Ensembl
rs751454224 CA1146807	1702	R>P		No	ClinGen ExAC
CA342693590 rs751454224	1702	R>Q		No	ClinGen ExAC
rs766279309 CA1146806	1703	S>I		No	ClinGen ExAC gnomAD
rs1206653812 CA342693557	1703	S>R		No	ClinGen gnomAD
rs1246923225 CA342693470	1705	R>G		No	ClinGen gnomAD
CA342693409 rs1338750544	1706	L>F		No	ClinGen gnomAD
rs1338750544 CA342693422	1706	L>F		No	ClinGen gnomAD
rs1268778816 CA342693293 COSM1559943	1710	G>E	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA342693280 rs762967225	1711	D>N		No	ClinGen ExAC TOPMed gnomAD
rs928863081 CA30930147	1715	D>A		No	ClinGen Ensembl
rs1400423200 CA342692977	1719	Q>R		No	ClinGen gnomAD
CA1146801 rs776310358	1720	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768058645 CA1146800	1722	V>G		No	ClinGen ExAC gnomAD
rs1571218819 CA342692787	1724	N>K		No	ClinGen Ensembl
rs1237271734 CA342692776	1725	E>G		No	ClinGen gnomAD
rs1182519628 CA342692674	1728	E>K		No	ClinGen gnomAD
rs1319901356 CA342692596	1729	P>L		No	ClinGen TOPMed gnomAD
rs993952025 CA30930089	1730	M>I		No	ClinGen TOPMed
CA1146798 rs200752027	1730	M>V		No	ClinGen ExAC TOPMed gnomAD
CA1146797 rs772704516	1731	E>A		No	ClinGen ExAC gnomAD
CA1146796 rs377643459	1731	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs772704516 CA342692547	1731	E>G		No	ClinGen ExAC gnomAD
CA1146795 rs779299147	1732	K>N		No	ClinGen ExAC gnomAD
rs1283665365 CA342692524	1733	S>N		No	ClinGen Ensembl
CA342692518 rs72993421	1733	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1174541998 CA342692516	1734	I>F		No	ClinGen TOPMed
rs749542568 CA1146793	1734	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1571218610 CA342692414	1740	T>P		No	ClinGen Ensembl
CA1146790 rs767487778	1743	A>S		No	ClinGen ExAC gnomAD
CA1146789 rs767487778	1743	A>T		No	ClinGen ExAC gnomAD
CA30930015 rs996214410	1744	P>L		No	ClinGen TOPMed
CA1146787 rs750360471	1745	P>L		No	ClinGen ExAC gnomAD
CA30929995 rs750360471	1745	P>R		No	ClinGen ExAC gnomAD
rs758445913 CA1146788	1745	P>S		No	ClinGen ExAC gnomAD
rs1430305901 CA342692278	1747	S>F		No	ClinGen gnomAD
CA1146786 rs765159621	1751	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1018837295 CA30929972	1751	R>H		No	ClinGen TOPMed gnomAD
CA342692144 rs1385592081	1752	S>T		No	ClinGen gnomAD
CA1146784 rs150285216	1754	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1146785 rs150285216	1754	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342692014 rs1429758215	1756	D>E		No	ClinGen gnomAD
rs763867508 CA1146783	1757	R>Q		No	ClinGen ExAC
rs905999508 CA30929918	1759	L>Q		No	ClinGen TOPMed
rs539158222 CA1146781	1761	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA30929902 rs947623371	1762	P>A		No	ClinGen TOPMed gnomAD
COSM1725549 rs1558106533 CA342691858	1762	P>L	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs947623371 CA30929899	1762	P>S		No	ClinGen TOPMed gnomAD
rs199958927 CA30929890	1763	D>G		No	ClinGen TOPMed gnomAD
rs771549332 CA1146780	1765	L>F		No	ClinGen ExAC gnomAD
rs1205821651 CA342691677	1768	P>L		No	ClinGen gnomAD
CA1146779 rs138474502	1768	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA30929871 rs898562429	1769	A>T		No	ClinGen Ensembl
CA1146778 rs774800516	1769	A>V		No	ClinGen ExAC gnomAD
rs4971053 CA1146775 VAR_028949	1771	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs4971053 CA342691630	1771	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1146774 rs756422793	1772	S>G		No	ClinGen ExAC TOPMed gnomAD
rs748283379 CA1146773	1772	S>R		No	ClinGen ExAC gnomAD
rs370591853 CA1146772	1773	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs755073402 CA1146771	1773	D>V		No	ClinGen ExAC TOPMed gnomAD
CA1146769 rs765210835	1774	S>F		No	ClinGen ExAC gnomAD
CA1146770 rs765210835	1774	S>Y		No	ClinGen ExAC gnomAD
rs1326354491 CA342691416	1775	C>S		No	ClinGen gnomAD
CA342691297 rs763767783	1777	N>K		No	ClinGen ExAC gnomAD
rs913508836 CA342691199	1779	I>M		No	ClinGen TOPMed gnomAD
rs139279643 CA1146764	1783	S>C		No	ClinGen ESP ExAC TOPMed
CA342690825 rs1274267673	1788	S>G		No	ClinGen TOPMed
CA342690768 rs1173825922	1790	C>R		No	ClinGen gnomAD
rs952600184 CA30929844	1790	C>Y		No	ClinGen TOPMed
rs1443090699 CA342690673	1791	S>F		No	ClinGen gnomAD
rs1203988797 CA342690703	1791	S>P		No	ClinGen gnomAD
rs773662870 CA1146758	1794	H>N		No	ClinGen ExAC gnomAD
CA1146757 rs774794397	1795	I>V		No	ClinGen ExAC TOPMed gnomAD
rs372986558 CA30929809	1798	S>I		No	ClinGen ESP TOPMed gnomAD
rs372986558 CA342690434	1798	S>N		No	ClinGen ESP TOPMed gnomAD
CA30929802 rs781501540	1798	S>R		No	ClinGen ExAC gnomAD
CA1146755 rs781501540	1798	S>R		No	ClinGen ExAC gnomAD
CA1146753 rs747145638	1799	V>A		No	ClinGen ExAC
rs768874704 CA1146754	1799	V>I		No	ClinGen ExAC TOPMed gnomAD
CA342690355 rs1359267567	1802	A>T		No	ClinGen gnomAD
CA342690336 rs1467952416	1803	M>T		No	ClinGen gnomAD
CA342690341 rs1335725781	1803	M>V		No	ClinGen gnomAD
rs1004591937 CA30929777	1804	Q>E		No	ClinGen Ensembl
rs780279320 CA1146752	1805	R>C		No	ClinGen ExAC gnomAD
CA1146751 rs757302359	1805	R>H		No	ClinGen ExAC gnomAD
rs753698911 CA1146750	1806	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1405630409 CA342690265	1807	A>S		No	ClinGen gnomAD
CA30929718 rs77275296	1808	R>P		No	ClinGen ExAC gnomAD
CA1146748 rs77275296	1808	R>Q		No	ClinGen ExAC gnomAD
CA1146749 rs769118389	1808	R>W		No	ClinGen ExAC gnomAD
CA1146747 rs749856698	1809	K>E		No	ClinGen ExAC TOPMed gnomAD
rs894997867 CA342690214	1810	M>L		No	ClinGen TOPMed gnomAD
CA342690211 rs1571217636	1810	M>T		No	ClinGen Ensembl
rs894997867 CA30929704	1810	M>V		No	ClinGen TOPMed gnomAD
CA30929689 rs370348263	1812	N>S		No	ClinGen Ensembl
rs759173972 CA1146745	1814	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1210907619 CA342690109	1815	K>Q		No	ClinGen gnomAD
CA342690074 rs1327531465	1816	I>V		No	ClinGen gnomAD
CA1146744 rs144516535	1818	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323003237 CA342689932	1822	N>S		No	ClinGen TOPMed
rs763559927 CA1146742	1825	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1571217464 CA342689843	1827	N>H		No	ClinGen Ensembl
CA342689771 rs1458560174	1829	I>T		No	ClinGen gnomAD
rs1558105796 RCV000782088 CA342689622	1836	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA1146738 rs369651892	1841	T>I		No	ClinGen ESP ExAC gnomAD
rs907335566 CA30929633	1843	N>S		No	ClinGen Ensembl
CA342689443 rs1181881631	1844	N>K		No	ClinGen gnomAD
CA1146737 rs769070672	1844	N>Y		No	ClinGen ExAC gnomAD
CA30929626 rs946077765	1848	R>C		No	ClinGen gnomAD
CA30929625 rs770203429	1848	R>H		No	ClinGen TOPMed gnomAD
CA342689238 rs747204729	1849	R>S		No	ClinGen ExAC gnomAD
rs531045652 CA1146735	1850	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771997170 CA1146734	1851	G>V		No	ClinGen ExAC gnomAD
CA342689150 rs1469393354	1852	R>Q		No	ClinGen TOPMed
rs375072249 CA1146733	1854	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA342689053 rs1324096346	1856	C>R		No	ClinGen gnomAD
CA342689005 rs1464795858	1857	P>R		No	ClinGen TOPMed
CA1146732 rs777505210	1857	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1243064486 CA342688991	1858	L>F		No	ClinGen gnomAD
CA30929545 rs1053274963	1858	L>P		No	ClinGen TOPMed
CA1146730 rs752491383	1860	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1436864679 CA342688923	1861	V>I		No	ClinGen gnomAD
CA1146728 rs754662724	1862	V>I		No	ClinGen ExAC TOPMed gnomAD
CA342688761 rs1437087118	1865	Q>H		No	ClinGen gnomAD
CA342688775 rs1414711897	1865	Q>R		No	ClinGen TOPMed
CA342688723 rs1351484543	1867	F>Y		No	ClinGen gnomAD
rs1040483514 CA30929523	1868	Q>R		No	ClinGen TOPMed
CA1146726 rs765892889	1874	N>S		No	ClinGen ExAC TOPMed gnomAD
rs757803736 CA1146725	1876	E>G		No	ClinGen ExAC gnomAD
rs750956675 CA1146724	1878	N>K		No	ClinGen ExAC gnomAD
rs765726365 CA1146723	1879	R>G		No	ClinGen ExAC gnomAD
rs371710202 CA1146720	1881	E>D		No	ClinGen ESP ExAC gnomAD
CA1146721 rs777179323	1881	E>K		No	ClinGen ExAC gnomAD
rs1447857931 CA342688296	1882	E>K		No	ClinGen gnomAD
rs1360264748 CA342688146	1886	L>Q		No	ClinGen gnomAD
CA342688106 rs1222427655	1888	L>F		No	ClinGen gnomAD
CA1146717 rs772198340	1894	T>A		No	ClinGen ExAC gnomAD
rs1435675006 CA342687864	1894	T>R		No	ClinGen TOPMed
rs1558105386 CA342687689	1900	V>F		No	ClinGen Ensembl
rs1229124675 CA342687686	1900	V>G		No	ClinGen gnomAD
CA30929437 rs943445357	1904	V>A		No	ClinGen TOPMed
CA30929430 rs936125894	1905	N>T		No	ClinGen Ensembl
rs1338464972 CA342687495	1907	N>H		No	ClinGen TOPMed
rs1294419836 CA342687455	1907	N>K		No	ClinGen gnomAD
CA1146715 rs774474607	1908	P>A		No	ClinGen ExAC gnomAD
CA1146716 rs774474607	1908	P>S		No	ClinGen ExAC gnomAD
CA30929405 rs774474607	1908	P>T		No	ClinGen ExAC gnomAD
rs1369495534 CA342687434	1909	E>Q		No	ClinGen gnomAD
rs1404300189 CA342687357	1910	H>L		No	ClinGen gnomAD
rs1404300189 CA342687334	1910	H>P		No	ClinGen gnomAD
rs1404300189 CA342687345	1910	H>R		No	ClinGen gnomAD
rs769686011 CA1146714	1910	H>Y		No	ClinGen ExAC gnomAD
CA1146713 rs748043765	1912	K>R		No	ClinGen ExAC gnomAD
CA1146712 rs781012225	1915	K>R		No	ClinGen ExAC TOPMed gnomAD
rs754714027 CA1146711	1918	G>V		No	ClinGen ExAC gnomAD
rs758059977 CA1146708	1921	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1146707 rs749969939	1924	Q>H		No	ClinGen ExAC gnomAD
CA342686928 rs1479381506	1924	Q>K		No	ClinGen gnomAD
rs1250368234 CA342686924	1924	Q>R		No	ClinGen gnomAD
CA342686874 rs1325380719	1925	T>N		No	ClinGen gnomAD
CA1146705 rs757754840	1926	R>K		No	ClinGen ExAC gnomAD
CA1146703 rs764585137	1929	Q>K		No	ClinGen ExAC gnomAD
rs1395890142 CA342686767	1929	Q>P		No	ClinGen gnomAD
CA1146700 rs767690149	1933	P>L		No	ClinGen ExAC gnomAD
rs774332850 CA1146698	1934	E>V		No	ClinGen ExAC gnomAD
rs142217207 COSM675756 CA1146697	1937	E>K	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA30929268 rs950377043	1938	Q>E		No	ClinGen Ensembl
rs748103249 CA1146696	1939	E>G		No	ClinGen ExAC gnomAD
rs78904392 CA1146695	1941	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs551522911 CA1146694	1942	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA342677282 rs1444978598	1947	A>V		No	ClinGen gnomAD
rs1337936201 CA342677252	1948	P>R		No	ClinGen TOPMed gnomAD
rs1167654829 CA342677272	1948	P>S		No	ClinGen TOPMed
rs200062254 CA30913086	1954	P>L		No	ClinGen 1000Genomes TOPMed
CA1146472 rs778032007	1954	P>S		No	ClinGen ExAC gnomAD
CA342677145 rs778032007	1954	P>T		No	ClinGen ExAC gnomAD
CA1146471 rs756431044	1955	S>F		No	ClinGen ExAC gnomAD
CA342677084 rs1313396107	1958	P>L		No	ClinGen gnomAD
rs116069205 CA1146469 RCV000911896	1961	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA30913081 rs976352716	1963	E>K		No	ClinGen Ensembl
CA342676963 rs1394314038	1964	P>S		No	ClinGen TOPMed
rs767833432 CA1146468	1965	E>G		No	ClinGen ExAC gnomAD
CA342676917 rs1357393492	1966	S>G		No	ClinGen gnomAD
CA30913077 rs147868062	1966	S>N		No	ClinGen ESP TOPMed
CA30913066 rs1031043069	1970	P>H		No	ClinGen TOPMed gnomAD
rs1031043069 CA342676831	1970	P>L		No	ClinGen TOPMed gnomAD
rs1456262176 CA342676818	1971	V>A		No	ClinGen gnomAD
CA342676758 rs1295749516	1974	L>V		No	ClinGen TOPMed
CA342676702 rs1204217199	1976	P>S		No	ClinGen gnomAD
rs1314303749 CA342676671	1977	R>K		No	ClinGen TOPMed
CA30913053 rs966281418	1981	P>L		No	ClinGen TOPMed
CA1146466 rs145101994	1981	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232564099 CA342676576	1983	R>C		No	ClinGen gnomAD
COSM1245560 rs766422974 CA1146465	1983	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1571151061 COSM1688722 CA342676557	1984	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA1146464 rs761759606	1984	P>S		No	ClinGen ExAC gnomAD
CA1146462 rs763810930	1992	A>V		No	ClinGen ExAC gnomAD
rs1345323002 CA342676411	1995	Y>F		No	ClinGen gnomAD
CA1146458 rs745497005 COSM3705049	1998	V>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1183914821 CA342676329	2002	T>A		No	ClinGen gnomAD
rs1425361192 CA342676324	2002	T>R		No	ClinGen gnomAD
CA1146443 rs750457683	2005	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1146442 rs764160439 COSM1295175	2007	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1003475553 CA30902851	2010	Q>*		No	ClinGen Ensembl
CA342670491 rs1265247327	2010	Q>R		No	ClinGen TOPMed gnomAD
CA1146440 rs775408719	2014	E>D		No	ClinGen ExAC gnomAD
rs775408719 CA342670324	2014	E>D		No	ClinGen ExAC gnomAD
CA342670193 rs1211897526	2017	E>V		No	ClinGen gnomAD
rs767171103 CA1146439	2022	E>D		No	ClinGen ExAC TOPMed gnomAD
CA342669955 rs1390987213	2027	L>V		No	ClinGen TOPMed
rs759296864 CA1146438	2028	F>L		No	ClinGen ExAC TOPMed gnomAD
CA1146436 rs770575804	2030	A>V		No	ClinGen ExAC TOPMed gnomAD
CA342669808 rs1285991399	2033	H>L		No	ClinGen TOPMed gnomAD
rs1571050553 CA342758110	2042	Y>C		No	ClinGen Ensembl
rs759344086 CA1146419	2045	Q>P		No	ClinGen ExAC
rs1322499992 CA342758039	2046	K>Q		No	ClinGen gnomAD
CA1146418 rs373522988	2047	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146417 rs766197187	2048	I>T		No	ClinGen ExAC
rs1571050479 CA342757948	2052	L>F		No	ClinGen Ensembl
rs1385335720 CA342757918	2054	Y>C		No	ClinGen gnomAD
rs1558047346 CA342757806	2061	K>R		No	ClinGen Ensembl
rs1329196782 CA342757791	2062	H>Y		No	ClinGen gnomAD
rs769192026 CA1146393	2067	K>E		No	ClinGen ExAC gnomAD
rs1213473199 CA342757094	2068	K>R		No	ClinGen TOPMed
rs1281597469 CA342757085	2069	P>L		No	ClinGen TOPMed
CA342757081 rs1283468679	2070	D>G		No	ClinGen gnomAD
rs1355338214 CA342757082	2070	D>Y		No	ClinGen TOPMed gnomAD
COSM170344 rs772388982 CA1146390	2078	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1146389 rs376223781	2078	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376223781 CA30929143	2078	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146373 rs775913213	2080	N>I		No	ClinGen ExAC gnomAD
rs1286983566 CA342756928	2081	V>I		No	ClinGen TOPMed
CA1146371 rs759878582	2082	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA342756909 rs759878582	2082	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA1146370 rs368443129	2083	V>I		No	ClinGen ESP ExAC gnomAD
CA30928969 rs1043079690	2092	E>K		No	ClinGen Ensembl
CA1146366 rs769953401	2093	A>G		No	ClinGen ExAC
CA342756690 rs1253444109	2100	K>E		No	ClinGen TOPMed
CA342756669 rs1488566946	2103	D>N		No	ClinGen gnomAD
rs758341804 CA1146363	2104	D>G		No	ClinGen ExAC gnomAD
rs745691964 CA1146362	2105	T>I		No	ClinGen ExAC TOPMed gnomAD
rs745691964 CA30928935	2105	T>N		No	ClinGen ExAC TOPMed gnomAD
rs745691964 CA342756651	2105	T>S		No	ClinGen ExAC TOPMed gnomAD
CA342756646 rs1258595268	2106	R>M		No	ClinGen gnomAD
rs756882697 CA1146360	2114	L>F		No	ClinGen ExAC gnomAD
rs1443651912 CA342756585	2115	N>D		No	ClinGen gnomAD
rs1311839189 CA342755076	2117	M>I		No	ClinGen gnomAD
CA342755089 rs1218923656	2117	M>V		No	ClinGen TOPMed gnomAD
rs1420976621 CA342755048	2119	F>L		No	ClinGen gnomAD
rs778604282 CA342755044	2120	A>S		No	ClinGen ExAC gnomAD
CA1146340 rs778604282	2120	A>T		No	ClinGen ExAC gnomAD
rs267598067 CA30922904	2121	E>K		No	ClinGen Ensembl
CA1146336 rs755762734	2125	N>S		No	ClinGen ExAC gnomAD
CA342754962 rs1380532823	2126	T>S		No	ClinGen gnomAD
CA342754947 rs1558039371	2127	C>W		No	ClinGen Ensembl
rs1558039336 CA342754929	2130	G>D		No	ClinGen Ensembl
rs1558039351 CA342754932	2130	G>S		No	ClinGen Ensembl
CA1146335 rs752241135	2131	E>G		No	ClinGen ExAC gnomAD
rs1296167879 CA342754925	2131	E>Q		No	ClinGen TOPMed
CA342754832 rs1182427369	2139	Q>H		No	ClinGen gnomAD
CA342754769 rs1571023435	2144	V>G		No	ClinGen Ensembl
rs947457657 CA30922873	2145	Q>R		No	ClinGen Ensembl
CA342754719 rs200512672	2151	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342754722 rs200512672	2151	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1146332 rs200512672	2151	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342754697 rs1238373758	2153	E>V		No	ClinGen gnomAD
rs1335585826 CA342754658	2156	G>V		No	ClinGen gnomAD
rs893198885 CA30922793	2159	I>M		No	ClinGen TOPMed gnomAD
CA30922806 rs916407977	2159	I>V		No	ClinGen TOPMed gnomAD
rs750802126 CA1146329	2161	T>I		No	ClinGen ExAC gnomAD
CA342754592 rs750802126	2161	T>N		No	ClinGen ExAC gnomAD
CA342754511 rs1195231703	2168	G>R		No	ClinGen gnomAD
rs1160127459 CA342754497	2169	Q>E		No	ClinGen gnomAD
rs1160127459 CA342754499	2169	Q>K		No	ClinGen gnomAD
rs529258551 CA30922777	2170	F>Y		No	ClinGen 1000Genomes
rs1456315051 CA342754457	2172	I>T		No	ClinGen gnomAD
rs144414727 CA30922775	2178	V>I		No	ClinGen ESP
rs762106400 CA1146327	2179	V>I		No	ClinGen ExAC
CA1146304 rs775429963	2186	N>D		No	ClinGen ExAC gnomAD
CA30922567 rs907205892	2188	M>I		No	ClinGen TOPMed
rs1268335263 CA342754175	2191	Q>E		No	ClinGen gnomAD
rs1364710940 CA342754170	2191	Q>R		No	ClinGen TOPMed
rs762852457 CA1146302	2193	H>R		No	ClinGen ExAC
rs1553247286 CA342754133	2194	N>H		No	ClinGen Ensembl
rs773010778 CA1146301	2196	S>N		No	ClinGen ExAC gnomAD
rs769533566 CA1146300	2204	D>N		No	ClinGen ExAC gnomAD
rs563016450 CA1146299	2213	R>C		No	ClinGen ExAC gnomAD
CA1146298 rs776289537	2213	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1224632413 CA342753800	2219	R>Q		No	ClinGen gnomAD
rs1034726895 CA30922517	2221	I>V		No	ClinGen Ensembl
rs1558030935 CA342752639	2236	V>I		No	ClinGen Ensembl
CA342752624 rs1471114653	2237	N>H		No	ClinGen gnomAD
rs934885489 CA30914593	2241	R>Q		No	ClinGen TOPMed
CA342752477 rs1482662882	2245	Y>C		No	ClinGen Ensembl
rs1433024122 CA342752439	2247	L>V		No	ClinGen gnomAD
CA342752404 rs1394720586	2250	M>L		No	ClinGen gnomAD
rs1394720586 CA342752406	2250	M>V		No	ClinGen gnomAD
rs775172041 CA1146267	2251	P>L		No	ClinGen ExAC TOPMed gnomAD
CA342752359 rs1441967175	2252	A>S		No	ClinGen gnomAD
rs1441967175 CA342752365	2252	A>T		No	ClinGen gnomAD
CA342752339 rs1236856165	2253	G>E		No	ClinGen gnomAD
rs1177051584 CA342752162	2263	H>R		No	ClinGen TOPMed
CA342752146 rs1405347094	2264	S>C		No	ClinGen TOPMed
rs1201676012 CA342752095	2267	V>M		No	ClinGen gnomAD
rs1040541392 CA30914539	2270	Q>L		No	ClinGen TOPMed gnomAD
rs1040541392 CA342752030	2270	Q>P		No	ClinGen TOPMed gnomAD
rs1399903407 CA342751056	2272	L>V		No	ClinGen TOPMed
CA1146245 rs749705190	2275	C>R		No	ClinGen ExAC gnomAD
rs778226620 COSM896910 CA1146244	2281	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs745869819 CA1146241	2285	G>R		No	ClinGen ExAC TOPMed gnomAD
rs779975153 CA1146238	2290	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757251782 CA1146237	2297	S>N		No	ClinGen ExAC gnomAD
rs78663502 CA30912725	2297	S>R		No	ClinGen TOPMed
rs78663502 CA342750409	2297	S>R		No	ClinGen TOPMed
CA342750363 rs1570985800	2299	N>T		No	ClinGen Ensembl
rs1193760581 CA342750340	2300	S>G		No	ClinGen TOPMed gnomAD
CA342750343 rs1193760581	2300	S>R		No	ClinGen TOPMed gnomAD
rs141623223 CA1146235	2301	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265030431 CA342750259	2302	P>S		No	ClinGen TOPMed
rs371347477 CA1146234	2303	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146233 rs371347477	2303	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146232 rs201612201	2304	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342750215 rs1283931341	2305	T>A		No	ClinGen gnomAD
CA1146230 rs774024798	2309	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1146228 rs142726363	2311	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146229 rs142371619	2311	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA30912696 rs771856597	2316	R>K		No	ClinGen Ensembl
rs773531429 CA1146227	2322	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1146226 rs770317827	2324	K>E		No	ClinGen ExAC gnomAD
rs1440655238 CA342749730	2327	G>D		No	ClinGen gnomAD
rs1301629372 CA342749735	2327	G>R		No	ClinGen gnomAD
CA1146214 rs759290621	2328	H>R		No	ClinGen ExAC gnomAD
CA1146212 rs765924711	2330	S>F		No	ClinGen ExAC gnomAD
rs751102451 CA1146213	2330	S>P		No	ClinGen ExAC gnomAD
CA342749657 rs1352318506	2331	E>Q		No	ClinGen gnomAD
rs1169311074 CA342749620	2333	P>S		No	ClinGen gnomAD
rs772773866 CA1146210	2334	S>R		No	ClinGen ExAC gnomAD
rs762424922 CA1146211	2334	S>T		No	ClinGen ExAC TOPMed gnomAD
rs201789145 CA1146209	2337	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA30912573 rs1005582731	2338	N>S		No	ClinGen TOPMed
rs768942741 CA1146206	2339	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1570984924 CA342749479	2339	T>P		No	ClinGen Ensembl
rs887197165 CA30912569	2341	T>A		No	ClinGen TOPMed gnomAD
CA342749442 rs887197165	2341	T>P		No	ClinGen TOPMed gnomAD
rs772335205 CA1146203	2342	R>K		No	ClinGen ExAC gnomAD
CA342749380 rs1570984843	2344	T>P		No	ClinGen Ensembl
CA342749370 rs1278493438	2344	T>S		No	ClinGen gnomAD
rs368940175 CA1146200	2345	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA30912528 rs895835339	2349	M>I		No	ClinGen TOPMed
CA1146199 rs373014963	2354	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781135607 CA1146198	2355	R>C		No	ClinGen ExAC gnomAD
CA342749100 rs1373258954	2355	R>H		No	ClinGen gnomAD
rs781135607 CA30912523	2355	R>S		No	ClinGen ExAC gnomAD
CA1146181 rs771064214	2358	N>T		No	ClinGen ExAC TOPMed gnomAD
rs748105933 CA1146180	2359	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1231056057 CA342747918	2360	V>A		No	ClinGen TOPMed
CA30910573 rs150326579	2363	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1146178 rs150326579	2363	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1476218832 CA342747894	2364	H>D		No	ClinGen TOPMed gnomAD
CA342747893 rs1476218832	2364	H>Y		No	ClinGen TOPMed gnomAD
rs1553244285 CA342747859	2369	R>*		No	ClinGen Ensembl
rs1443803670 CA342747857	2369	R>Q		No	ClinGen TOPMed
rs1264156573 CA342747817	2374	I>M		No	ClinGen gnomAD
rs779876273 CA1146176	2374	I>V		No	ClinGen ExAC gnomAD
CA1146175 rs758008273	2375	R>H		No	ClinGen ExAC TOPMed gnomAD
CA30910534 rs373955970	2385	S>G		No	ClinGen ESP TOPMed
rs1352225895 CA342747730	2386	D>E		No	ClinGen Ensembl
rs1442596279 CA342747736	2386	D>N		No	ClinGen TOPMed
CA1146173 rs764741496	2388	I>T		No	ClinGen ExAC gnomAD
CA1146172 rs756819601	2390	S>L		No	ClinGen ExAC TOPMed gnomAD
CA1146171 rs753343387	2394	Y>C		No	ClinGen ExAC gnomAD
COSM1498603 CA342747678 rs753343387	2394	Y>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1232173893 CA342747682	2394	Y>H		No	ClinGen gnomAD
CA1146170 rs367703789	2395	T>I		No	ClinGen ESP ExAC gnomAD
CA342747669 rs1384044854	2396	R>G		No	ClinGen gnomAD
CA342747644 rs1294583309	2399	G>A		No	ClinGen gnomAD
CA342747645 rs1294583309	2399	G>E		No	ClinGen gnomAD
CA342747637 rs1462884700	2400	I>S		No	ClinGen gnomAD
RCV001091728 CA342747623 rs1249415159	2402	R>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA342747618 rs1166808942	2403	D>G		No	ClinGen TOPMed
CA342747614 rs1404359553	2404	D>N		No	ClinGen TOPMed
rs1164244351 CA342747601	2405	G>V		No	ClinGen gnomAD
CA342747562 rs1396676210	2407	I>M		No	ClinGen TOPMed
CA1146167 rs767886572	2409	S>A		No	ClinGen ExAC gnomAD
rs370973960 CA1146155	2411	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA30906705 rs971136140	2417	S>P		No	ClinGen TOPMed
rs1221875157 CA342745683	2420	Q>*		No	ClinGen TOPMed
CA1146152 rs753396609	2422	A>S		No	ClinGen ExAC TOPMed gnomAD
rs753396609 CA342745610	2422	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1251961569 CA342745577	2423	R>L		No	ClinGen gnomAD
rs1178051389 CA342745521	2426	R>G		No	ClinGen TOPMed
CA342745475 rs1338292426	2427	T>I		No	ClinGen gnomAD
CA1146150 rs756613295	2429	R>W		No	ClinGen ExAC gnomAD
rs1236187110 CA342745348	2431	A>V		No	ClinGen gnomAD
rs1345531964 CA342745327	2432	A>G		No	ClinGen gnomAD
CA342745319 rs1302571755	2433	A>T		No	ClinGen gnomAD
rs1442924686 CA342745193	2437	I>T		No	ClinGen gnomAD
CA1146147 rs760000093	2441	R>P		No	ClinGen ExAC gnomAD
CA1146148 rs760000093	2441	R>Q		No	ClinGen ExAC gnomAD
rs751965544 CA1146146	2442	A>V		No	ClinGen ExAC gnomAD
rs766745788 CA1146145	2444	R>C		No	ClinGen ExAC TOPMed gnomAD
CA342745006 rs1175812232	2444	R>H		No	ClinGen TOPMed gnomAD
CA30906652 rs935230342	2445	L>P		No	ClinGen Ensembl
rs1433230103 CA342744991	2445	L>V		No	ClinGen gnomAD
CA342744868 rs1570972355	2448	I>T		No	ClinGen Ensembl
rs28465679 CA30906642	2449	F>S		No	ClinGen Ensembl
rs763243477 CA1146144	2450	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1159512088 CA342744801	2451	E>K		No	ClinGen gnomAD
rs1471407137 CA342744786	2451	E>V		No	ClinGen gnomAD
rs773447020 CA342744602	2454	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1012804631 CA30906627	2454	D>N		No	ClinGen TOPMed
rs1418923105 CA342744603	2454	D>V		No	ClinGen gnomAD
CA342744570 rs1363244104	2455	G>D		No	ClinGen TOPMed
rs775478175 CA30906613	2455	G>R		No	ClinGen gnomAD
rs1463059277 CA342744517	2457	I>V		No	ClinGen TOPMed
CA1146127 rs752016721	2462	S>C		No	ClinGen ExAC gnomAD
rs150689346 CA1146125	2464	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146126 rs766799007	2464	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1146124 rs750605925	2465	Q>E		No	ClinGen ExAC gnomAD
rs765246343 CA1146123	2468	A>T		No	ClinGen ExAC gnomAD
CA30904600 rs200380391	2469	A>G		No	ClinGen Ensembl
rs1294659517 CA342743185	2469	A>P		No	ClinGen TOPMed
CA1146122 rs762019708	2470	P>Q		No	ClinGen ExAC gnomAD
CA342743144 rs1370817323	2470	P>S		No	ClinGen TOPMed
CA342743043 rs1570962909	2472	L>F		No	ClinGen Ensembl
rs1166407150 CA342742958	2476	P>Q		No	ClinGen TOPMed gnomAD
CA30904538 rs111598076	2477	K>R		No	ClinGen Ensembl
rs764043943 CA1146102	2480	N>S		No	ClinGen ExAC gnomAD
CA342742684 rs1394185780	2481	A>D		No	ClinGen TOPMed
rs1167682897 CA342742649	2482	D>V		No	ClinGen TOPMed gnomAD
rs148173537 CA1146101	2485	E>D		No	ClinGen ESP ExAC gnomAD
rs774220548 CA1146100	2487	I>F		No	ClinGen ExAC gnomAD
CA342742360 rs1171240614	2490	P>R		No	ClinGen gnomAD
rs1401906532 CA342742354	2491	L>V		No	ClinGen TOPMed
rs913604674 CA30904394	2492	D>G		No	ClinGen TOPMed
rs1233466702 CA342742228	2494	I>T		No	ClinGen gnomAD
CA1146097 rs201853293	2496	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1442236237 CA342742153	2496	I>R		No	ClinGen TOPMed
CA1146098 rs201853293	2496	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA342742142 rs1558019958	2497	E>G		No	ClinGen Ensembl
rs1370650798 CA342741926	2502	T>S		No	ClinGen TOPMed
rs747704331 CA342741874	2504	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs747704331 CA1146095	2504	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA342741870 rs747704331	2504	Y>S		No	ClinGen ExAC TOPMed gnomAD
COSM675759 rs776234558 CA1146094	2505	Y>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA342741795 rs1570962361	2507	T>S		No	ClinGen Ensembl
CA342741719 rs1293752583	2510	A>T		No	ClinGen TOPMed
CA1146093 rs768213061	2515	M>V		No	ClinGen ExAC gnomAD
CA30904352 rs796093053	2517	K>R		No	ClinGen Ensembl
CA342741413 rs1440727642	2518	V>I		No	ClinGen gnomAD
CA1146092 rs747531593	2520	R>W		No	ClinGen ExAC gnomAD
rs988100459 CA30904337	2523	E>Q		No	ClinGen Ensembl
CA30903293 rs528978690	2524	K>R		No	ClinGen 1000Genomes
CA1146083 rs756247980	2526	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA342739323 rs1383265101	2526	Y>H		No	ClinGen TOPMed
CA342739227 COSM206743 rs1376913986	2528	R>C	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs41264231 CA1146082	2528	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1305118783 CA342739105	2530	S>C		No	ClinGen TOPMed
rs766339318 CA1146081	2532	V>F		No	ClinGen ExAC gnomAD
CA342739039 rs766339318	2532	V>L		No	ClinGen ExAC gnomAD
rs148356382 CA30903260	2533	G>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA342738987 rs1345683218	2534	R>K		No	ClinGen TOPMed gnomAD
rs762852364 CA1146080	2535	D>N		No	ClinGen ExAC gnomAD
rs146657498 CA342738878	2536	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146079 rs146657498	2536	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146078 COSM2210638 rs764902812	2538	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1146077 rs138122556	2538	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA30903238 rs775570091	2540	R>*		No	ClinGen Ensembl
CA1146076 rs776090224 COSM1334646	2540	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA30903226 rs887866670	2541	K>M		No	ClinGen Ensembl
rs1214367566 CA342738525	2543	Y>C		No	ClinGen gnomAD
rs772726796 CA1146072	2546	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1146073 rs772726796	2546	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1017867504 CA30903196	2546	A>V		No	ClinGen TOPMed
rs1233392035 CA342738378	2547	R>Q		No	ClinGen TOPMed gnomAD
rs1287101258 CA342738408	2547	R>W		No	ClinGen gnomAD
CA1146071 rs746319095	2548	H>Y		No	ClinGen ExAC gnomAD
rs771140745 CA1146069	2552	A>S		No	ClinGen ExAC gnomAD
rs749647796 CA1146068	2554	I>T		No	ClinGen ExAC gnomAD
rs1451466263 CA342737980	2555	D>V		No	ClinGen gnomAD
CA342737861 rs1165690113	2558	V>M		No	ClinGen gnomAD
CA30903178 rs199512996	2561	T>A		No	ClinGen 1000Genomes
rs143323544 CA1146067	2566	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1415924589 CA342737531	2567	S>G		No	ClinGen gnomAD
rs756301245 CA1146066	2567	S>I		No	ClinGen ExAC TOPMed gnomAD
rs200922928 CA30903151	2572	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1146063 COSM317025 rs200922928	2572	V>I	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1464806069 CA342737253	2573	S>F		No	ClinGen gnomAD
rs750263417 CA1146062	2577	N>D		No	ClinGen ExAC gnomAD
CA30903140 rs992795073	2578	G>E		No	ClinGen Ensembl
rs765095671 CA1146061	2579	H>P		No	ClinGen ExAC gnomAD
rs1387314802 CA342736918	2581	K>R		No	ClinGen TOPMed
CA1146059 rs753663191	2582	D>G		No	ClinGen ExAC gnomAD
rs140353809 CA1146060	2582	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1146056 rs775170034 COSM1134719	2583	D>G	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1146057 rs144763635	2583	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs751151758 CA30903124	2584	D>N		No	ClinGen gnomAD
CA1146054 COSM896906 rs760100125	2587	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1146053 rs765267099	2587	R>H		No	ClinGen ExAC gnomAD
CA342736458 rs1162747074 COSM1197419	2589	I>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs752823313 CA30903101	2591	G>S		No	ClinGen gnomAD
CA342736278 rs1228954037	2594	K>R		No	ClinGen TOPMed
CA1146050 rs778092682	2595	D>V		No	ClinGen ExAC gnomAD
CA1146037 rs759031779	2610	H>D		No	ClinGen ExAC gnomAD
CA342734989 rs1570953603	2612	D>G		No	ClinGen Ensembl
rs773877259 CA1146036	2614	M>V		No	ClinGen ExAC gnomAD
rs766848259 CA1146035	2615	G>E		No	ClinGen ExAC gnomAD
CA342734753 rs1570953555	2616	V>G		No	ClinGen Ensembl
rs1482525315 CA342734685	2618	S>L		No	ClinGen gnomAD
rs1202665100 CA342734708	2618	S>P		No	ClinGen gnomAD
rs113306711 CA30902372	2622	H>R		No	ClinGen Ensembl
rs1251952801 CA342734198	2627	Q>R		No	ClinGen TOPMed gnomAD
CA1146032 rs770079630	2629	D>A		No	ClinGen ExAC gnomAD
rs1159310252 CA342733863	2633	V>L		No	ClinGen TOPMed
rs776898361 CA1146030	2634	D>N		No	ClinGen ExAC gnomAD
CA1145997 rs751159490	2636	E>D		No	ClinGen ExAC gnomAD
CA30900563 rs1037757184	2639	M>V		No	ClinGen TOPMed gnomAD
CA342731882 rs1256127454	2642	R>Q		No	ClinGen TOPMed gnomAD
CA342731856 rs1366366738	2644	H>P		No	ClinGen TOPMed gnomAD
rs757964056 CA1145995	2645	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA342731831 rs757964056	2645	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA1145994 rs749932376	2647	Q>P		No	ClinGen ExAC gnomAD
CA342731777 rs1368336133	2648	P>T		No	ClinGen gnomAD
rs1307133747 CA342731726	2649	G>D		No	ClinGen gnomAD
rs765774025 CA1145993	2650	C>Y		No	ClinGen ExAC gnomAD
rs1360806618 CA342731453	2657	L>V		No	ClinGen gnomAD
COSM1472716 rs762285533 CA1145992	2658	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs369466292 CA1145990	2664	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369466292 CA1145989	2664	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306814872 CA342730526	2673	R>G		No	ClinGen TOPMed
rs766504592 CA1145966	2676	R>Q		No	ClinGen ExAC gnomAD
CA342730422 rs1384675040	2676	R>W		No	ClinGen TOPMed
CA30900202 rs1037890253 COSM1334645	2677	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1145965 rs761672622	2677	R>H		No	ClinGen ExAC TOPMed gnomAD
CA342730332 rs1326538336	2678	T>I		No	ClinGen gnomAD
CA342730316 rs770725772	2679	P>H		No	ClinGen ExAC TOPMed gnomAD
CA1145963 rs770725772	2679	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776691150 CA1145964	2679	P>S		No	ClinGen ExAC TOPMed gnomAD
CA342730178 rs775244129	2682	H>D		No	ClinGen ExAC gnomAD
CA1145961 rs775244129	2682	H>Y		No	ClinGen ExAC gnomAD
rs771735288 CA1145960	2683	P>L		No	ClinGen ExAC gnomAD
rs1196906886 CA342730089	2685	R>H		No	ClinGen TOPMed
CA342730105 rs1432980905	2685	R>S		No	ClinGen gnomAD
CA1145957 rs756815721	2689	R>Q		No	ClinGen ExAC gnomAD
CA342729590 rs1046539314	2696	R>L		No	ClinGen TOPMed gnomAD
rs1046539314 CA30900173	2696	R>Q		No	ClinGen TOPMed gnomAD
CA342729424 rs1392555072	2701	I>V		No	ClinGen gnomAD
rs868499425 CA30900169	2702	F>S		No	ClinGen Ensembl
rs1187301977 CA342729343	2703	R>H		No	ClinGen gnomAD
rs949363994 CA30900166	2705	E>D		No	ClinGen TOPMed
CA342728924 rs1483184623	2713	E>D		No	ClinGen gnomAD
rs1208798693 CA342728947	2713	E>G		No	ClinGen gnomAD
CA1145944 rs775267374	2715	R>Q		No	ClinGen ExAC gnomAD
CA1145942 rs745646889	2717	A>T		No	ClinGen ExAC gnomAD
CA1145939 rs544818597	2723	F>L		No	ClinGen ExAC gnomAD
CA342728413 rs1300684079	2724	R>C		No	ClinGen gnomAD
CA1145938 rs375304383	2724	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs781703763 CA1145935	2731	S>T		No	ClinGen ExAC gnomAD
CA1145934 rs755453867	2733	S>C		No	ClinGen ExAC TOPMed gnomAD
rs751971592 CA1145933	2735	R>Q		No	ClinGen ExAC gnomAD
rs1370863385 CA342727774	2735	R>W		No	ClinGen TOPMed gnomAD
rs751156380 CA1145931	2743	R>Q		No	ClinGen ExAC gnomAD
CA342727263 rs1423749554	2751	P>A		No	ClinGen TOPMed
rs760674599 CA1145928	2756	V>A		No	ClinGen ExAC gnomAD
COSM272358 CA1145927 rs202229139	2758	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1145926 rs767437028	2761	V>M		No	ClinGen ExAC gnomAD
rs372496919 CA1145924	2766	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1145922 rs530014281	2768	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1321871981 CA342725345	2771	R>K		No	ClinGen gnomAD
CA342725319 rs1202822592	2772	P>L		No	ClinGen TOPMed
rs1268497542 CA342725328	2772	P>S		No	ClinGen gnomAD
CA342725315 rs1570941424	2773	K>Q		No	ClinGen Ensembl
rs1570941397 CA342725199	2775	V>G		No	ClinGen Ensembl
rs768075259 CA30899316	2775	V>I		No	ClinGen Ensembl
rs766018455 CA1145906	2786	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769311849 CA1145899	2788	D>E		No	ClinGen ExAC gnomAD
CA1145902 rs761452752	2788	D>G		No	ClinGen ExAC gnomAD
rs201217282 CA342724707	2788	D>N		No	ClinGen ExAC gnomAD
rs761452752 CA1145901	2788	D>V		No	ClinGen ExAC gnomAD
rs201217282 CA1145903	2788	D>Y		No	ClinGen ExAC gnomAD
rs780472337 CA1145896	2790	S>*		No	ClinGen ExAC
CA342724530 rs1471718695	2791	A>E		No	ClinGen gnomAD
rs772377979 CA1145895	2792	H>Y		No	ClinGen ExAC gnomAD
CA342724416 rs1466207680	2795	Y>H		No	ClinGen gnomAD
rs757446840 CA1145892	2799	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1145893 rs779041649	2799	R>W		No	ClinGen ExAC gnomAD
CA342724215 rs1298178532	2801	R>C		No	ClinGen gnomAD
rs369654728 CA1145891	2801	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA342724225 rs1298178532	2801	R>S		No	ClinGen gnomAD
CA30899194 rs111804459	2803	P>L		No	ClinGen Ensembl
rs777788834 CA1145890	2804	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1439211926 CA342723971	2808	P>L		No	ClinGen gnomAD
rs1356169111 CA342723962	2809	Y>H		No	ClinGen gnomAD
rs754910117 CA1145889	2810	A>V		No	ClinGen ExAC gnomAD
CA342723738 rs1363672722	2815	P>L		No	ClinGen gnomAD
CA342723558 rs1350090943	2820	P>S		No	ClinGen gnomAD
CA342723510 rs1403390460	2822	K>N		No	ClinGen gnomAD
CA342723515 rs1325186465	2822	K>R		No	ClinGen gnomAD
CA342723479 rs1391741267	2824	F>C		No	ClinGen TOPMed
rs369193689 CA1145887	2825	S>L		No	ClinGen ESP ExAC gnomAD
rs371493386 CA30897648	2829	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs371493386 CA1145873	2829	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1145872 rs367682239	2831	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs749444214 RCV001254950 CA1145871	2834	K>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs193273160 CA1145870	2836	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748257840 CA1145868	2839	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1301079792 CA342720870	2843	K>R		No	ClinGen TOPMed gnomAD
CA342720874 rs1301079792	2843	K>T		No	ClinGen TOPMed gnomAD
rs1322664373 CA342720794	2845	E>A		No	ClinGen TOPMed gnomAD
rs374632511 CA1145842	2846	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1145841 rs779448272 COSM206737	2846	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA342720729 rs779448272	2846	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1145840 rs779448272	2846	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766982208 CA1145839	2853	D>Y		No	ClinGen ExAC gnomAD
CA1145837 rs752116216	2856	Q>H		No	ClinGen ExAC gnomAD
CA342720265 rs759972382	2856	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA1145838 rs759972382	2856	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1450653784 CA342720209	2858	D>G		No	ClinGen gnomAD
rs1210089732 CA342720171	2859	D>G		No	ClinGen gnomAD
rs1248051044 CA342720191	2859	D>N		No	ClinGen gnomAD
CA1145835 rs763350702	2860	A>S		No	ClinGen ExAC gnomAD
rs763350702 CA1145836	2860	A>T		No	ClinGen ExAC gnomAD
CA342720015 rs1259835640	2864	I>T		No	ClinGen TOPMed gnomAD
CA30897311 rs148152776	2865	E>K		No	ClinGen Ensembl
rs773548534 CA1145834	2867	V>F		No	ClinGen ExAC gnomAD
rs201154622 CA1145832	2869	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs776577698 CA1145831	2870	S>G		No	ClinGen ExAC gnomAD
COSM1736827 CA342719663 rs1380648843	2874	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA342719593 rs1342232081	2875	A>G		No	ClinGen TOPMed
rs768724603 CA1145830	2876	N>S		No	ClinGen ExAC gnomAD
rs755431023 CA1145829	2878	I>T		No	ClinGen ExAC TOPMed gnomAD
rs779032295 CA1145828	2882	E>A		No	ClinGen ExAC gnomAD
rs1270442248 CA342719224	2884	P>Q		No	ClinGen TOPMed
CA1145827 rs370346869	2884	P>S		No	ClinGen ESP ExAC gnomAD
rs749117083 CA1145826	2885	E>K		No	ClinGen ExAC gnomAD
CA1145823 rs375668916	2886	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190341782 CA1145825	2886	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189915883 CA342719064	2888	G>R		No	ClinGen gnomAD
rs1171309700 CA342719016	2890	T>A		No	ClinGen gnomAD
CA342718989 rs1390908329	2891	A>V		No	ClinGen TOPMed
rs201581290 CA1145821	2892	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144063453 CA1145819	2893	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs997343562 CA30897295	2897	E>G		No	ClinGen Ensembl
rs1221514832 CA342718676	2898	K>N		No	ClinGen TOPMed gnomAD
rs763405486 CA1145818	2899	K>E		No	ClinGen ExAC gnomAD
CA1145817 rs750821166	2899	K>T		No	ClinGen ExAC gnomAD
CA1145816 rs765572014	2900	T>K		No	ClinGen ExAC
rs1325859864 CA342718585	2901	E>K		No	ClinGen gnomAD
CA342718509 rs1302086402	2902	E>G		No	ClinGen gnomAD
CA1145812 rs776971631	2903	S>N		No	ClinGen ExAC TOPMed gnomAD
CA30897287 rs906842292	2904	S>N		No	ClinGen TOPMed gnomAD
rs1041102702 CA30897285	2904	S>R		No	ClinGen Ensembl
CA342718422 rs906842292	2904	S>T		No	ClinGen TOPMed gnomAD
CA342718281 rs1181143310	2907	P>L		No	ClinGen gnomAD
rs760857394 CA1145810	2910	T>A		No	ClinGen ExAC TOPMed gnomAD
CA342718221 rs1372936165	2910	T>S		No	ClinGen gnomAD
CA1145808 rs771023259	2912	T>I		No	ClinGen ExAC gnomAD
CA1145809 rs775661137	2912	T>S		No	ClinGen ExAC gnomAD
rs771023259 CA342718184	2912	T>S		No	ClinGen ExAC gnomAD
CA1145806 rs777719270	2913	P>H		No	ClinGen ExAC TOPMed gnomAD
CA342718156 rs777719270	2913	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1176189509 CA342718163	2913	P>S		No	ClinGen gnomAD
rs769685270 CA1145805	2916	R>Q		No	ClinGen ExAC gnomAD
CA1145803 rs754089160 COSM1238240	2917	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1145804 rs747888264	2917	R>W		No	ClinGen ExAC TOPMed gnomAD
CA342717969 rs1338688944	2919	N>S		No	ClinGen gnomAD
CA342717895 rs746549334	2920	Q>P		No	ClinGen ExAC gnomAD
CA1145801 rs746549334	2920	Q>R		No	ClinGen ExAC gnomAD
CA342717876 rs143897998	2921	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1145799 rs143897998	2921	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA342717883 rs1282948812	2921	R>W		No	ClinGen gnomAD
rs1352646632 CA342717866	2922	E>K		No	ClinGen TOPMed gnomAD
rs16836837 CA30897270	2924	L>H		No	ClinGen Ensembl
CA342717546 rs1470701270	2932	L>R		No	ClinGen TOPMed gnomAD
CA342717484 rs1276896937	2933	E>K		No	ClinGen gnomAD
rs908820138 CA342717378	2935	I>L		No	ClinGen gnomAD
rs908820138 CA30897267	2935	I>V		No	ClinGen gnomAD
CA1145795 rs754129527	2938	K>E		No	ClinGen ExAC TOPMed gnomAD
rs551255623 CA30897265	2939	N>S		No	ClinGen Ensembl
rs1466401750 CA342716790	2941	I>T		No	ClinGen gnomAD
rs764298082 CA1145777	2947	L>V		No	ClinGen ExAC TOPMed gnomAD
CA30897228 rs776253661	2956	R>*		No	ClinGen Ensembl
rs756414058 CA1145776	2956	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1375751864 CA342716185 COSM3385238	2958	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA30897227 rs887117525	2958	R>H		No	ClinGen TOPMed gnomAD
CA342716178 rs887117525	2958	R>P		No	ClinGen TOPMed gnomAD
rs767844998 CA1145773	2959	T>I		No	ClinGen ExAC gnomAD
rs1570931219 CA342716083	2961	F>L		No	ClinGen Ensembl
rs1047286104 CA30897226	2961	F>S		No	ClinGen TOPMed gnomAD
rs931557923 CA30897225	2963	P>L		No	ClinGen Ensembl
CA342715855 rs1389447912	2965	N>K		No	ClinGen TOPMed
rs576415116 CA1145771	2966	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA342715795 rs1422627687	2967	F>I		No	ClinGen gnomAD
rs143633976 COSM896900 CA1145770	2968	R>*	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM347929 rs765245236 CA1145769	2968	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD

1 associated diseases with Q9NR48

[MIM: 617796]: Intellectual developmental disorder, autosomal dominant 52 (MRD52)

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:27824329, ECO:0000269|PubMed:28191889, ECO:0000269|PubMed:28394464}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:27824329, ECO:0000269|PubMed:28191889, ECO:0000269|PubMed:28394464}. Note=The disease is caused by variants affecting the gene represented in this entry.

13 regional properties for Q9NR48

Type	Name	Position	InterPro Accession
domain	Bromo adjacent homology (BAH) domain	2661 - 2798	IPR001025
domain	SET domain	2145 - 2267	IPR001214
domain	Bromodomain	2442 - 2552	IPR001487
domain	Zinc finger, PHD-type	2587 - 2629	IPR001965
domain	Post-SET domain	2269 - 2285	IPR003616
domain	AWS domain	2091 - 2143	IPR006560
conserved_site	AT hook, DNA-binding motif	825 - 837	IPR017956-1
conserved_site	AT hook, DNA-binding motif	887 - 899	IPR017956-2
conserved_site	AT hook, DNA-binding motif	1347 - 1359	IPR017956-3
conserved_site	AT hook, DNA-binding motif	1847 - 1859	IPR017956-4
conserved_site	Zinc finger, PHD-type, conserved site	2588 - 2628	IPR019786
domain	ASH1-like, PHD finger	2586 - 2628	IPR043319
domain	ASH1-like, Bromodomain	2443 - 2548	IPR043320

Functions

		Description
EC Number	2.1.1.359	Methyltransferases
Subcellular Localization	Nucleus Cell junction, tight junction Chromosome	The relevance of tight junction localization is however unclear
PANTHER Family	PTHR46147	HISTONE-LYSINE N-METHYLTRANSFERASE ASH1
PANTHER Subfamily	PTHR46147:SF2	SET-BINDING PROTEIN
PANTHER Protein Class	chromatin/chromatin-binding, or -regulatory protein histone modifying enzyme
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

7 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
histone methyltransferase activity (H3-K36 specific)	Catalysis of the reaction: S-adenosyl-L-methionine + histone H3 L-lysine (position 36) = S-adenosyl-L-homocysteine + histone H3 N6-methyl-L-lysine (position 36). This reaction is the addition of a methyl group onto lysine at position 36 of the histone H3 protein.
histone methyltransferase activity (H3-K4 specific)	Catalysis of the reaction: S-adenosyl-L-methionine + histone H3 L-lysine (position 4) = S-adenosyl-L-homocysteine + histone H3 N6-methyl-L-lysine (position 4). This reaction is the addition of a methyl group onto lysine at position 4 of the histone H3 protein.
histone methyltransferase activity (H3-K9 specific)	Catalysis of the reaction: S-adenosyl-L-methionine + histone H3 L-lysine (position 9) = S-adenosyl-L-homocysteine + histone H3 N6-methyl-L-lysine (position 9). This reaction is the addition of a methyl group onto lysine at position 9 of the histone H3 protein.
histone-lysine N-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N6-methyl-L-lysine. The methylation of peptidyl-lysine in histones forms N6-methyl-L-lysine, N6,N6-dimethyl-L-lysine and N6,N6,N6-trimethyl-L-lysine derivatives.
metal ion binding	Binding to a metal ion.

14 GO annotations of biological process

Name	Definition
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
decidualization	The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta.
flagellated sperm motility	The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
histone H3-K36 dimethylation	The modification of histone H3 by addition of two methyl groups to lysine at position 36 of the histone.
negative regulation of acute inflammatory response	Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response.
negative regulation of I-kappaB kinase/NF-kappaB signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.
negative regulation of MAPK cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the MAPKKK cascade.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
post-embryonic development	The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
single fertilization	The union of male and female gametes to form a zygote.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
tarsal gland development	The process whose specific outcome is the progression of a tarsal gland over time, from its formation to the mature structure.
uterine gland development	The process whose specific outcome is the progression of an uterine gland over time, from its formation to the mature structure.
uterus morphogenesis	The process in which anatomical structures of the uterus are generated and organized.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VW15	ash1	Histone-lysine N-methyltransferase ash1	Drosophila melanogaster (Fruit fly)	SS
Q99MY8	Ash1l	Histone-lysine N-methyltransferase ASH1L	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MDPRNTAMLG	LGSDSEGFSR	KSPSAISTGT	LVSKREVELE	KNTKEEEDLR	KRNRERNIEA
70	80	90	100	110	120
GKDDGLTDAQ	QQFSVKETNF	SEGNLKLKIG	LQAKRTKKPP	KNLENYVCRP	AIKTTIKHPR
130	140	150	160	170	180
KALKSGKMTD	EKNEHCPSKR	DPSKLYKKAD	DVAAIECQSE	EVIRLHSQGE	NNPLSKKLSP
190	200	210	220	230	240
VHSEMADYIN	ATPSTLLGSR	DPDLKDRALL	NGGTSVTEKL	AQLIATCPPS	KSSKTKPKKL
250	260	270	280	290	300
GTGTTAGLVS	KDLIRKAGVG	SVAGIIHKDL	IKKPTISTAV	GLVTKDPGKK	PVFNAAVGLV
310	320	330	340	350	360
NKDSVKKLGT	GTTAVFINKN	LGKKPGTITT	VGLLSKDSGK	KLGIGIVPGL	VHKESGKKLG
370	380	390	400	410	420
LGTVVGLVNK	DLGKKLGSTV	GLVAKDCAKK	IVASSAMGLV	NKDIGKKLMS	CPLAGLISKD
430	440	450	460	470	480
AINLKAEALL	PTQEPLKASC	STNINNQESQ	ELSESLKDSA	TSKTFEKNVV	RQNKESILEK
490	500	510	520	530	540
FSVRKEIINL	EKEMFNEGTC	IQQDSFSSSE	KGSYETSKHE	KQPPVYCTSP	DFKMGGASDV
550	560	570	580	590	600
STAKSPFSAV	GESNLPSPSP	TVSVNPLTRS	PPETSSQLAP	NPLLLSSTTE	LIEEISESVG
610	620	630	640	650	660
KNQFTSESTH	LNVGHRSVGH	SISIECKGID	KEVNDSKTTH	IDIPRISSSL	GKKPSLTSES
670	680	690	700	710	720
SIHTITPSVV	NFTSLFSNKP	FLKLGAVSAS	DKHCQVAESL	STSLQSKPLK	KRKGRKPRWT
730	740	750	760	770	780
KVVARSTCRS	PKGLELERSE	LFKNVSCSSL	SNSNSEPAKF	MKNIGPPSFV	DHDFLKRRLP
790	800	810	820	830	840
KLSKSTAPSL	ALLADSEKPS	HKSFATHKLS	SSMCVSSDLL	SDIYKPKRGR	PKSKEMPQLE
850	860	870	880	890	900
GPPKRTLKIP	ASKVFSLQSK	EEQEPPILQP	EIEIPSFKQG	LSVSPFPKKR	GRPKRQMRSP
910	920	930	940	950	960
VKMKPPVLSV	APFVATESPS	KLESESDNHR	SSSDFFESED	QLQDPDDLDD	SHRPSVCSMS
970	980	990	1000	1010	1020
DLEMEPDKKI	TKRNNGQLMK	TIIRKINKMK	TLKRKKLLNQ	ILSSSVESSN	KGKVQSKLHN
1030	1040	1050	1060	1070	1080
TVSSLAATFG	SKLGQQINVS	KKGTIYIGKR	RGRKPKTVLN	GILSGSPTSL	AVLEQTAQQA
1090	1100	1110	1120	1130	1140
AGSALGQILP	PLLPSSASSS	EILPSPICSQ	SSGTSGGQSP	VSSDAGFVEP	SSVPYLHLHS
1150	1160	1170	1180	1190	1200
RQGSMIQTLA	MKKASKGRRR	LSPPTLLPNS	PSHLSELTSL	KEATPSPISE	SHSDETIPSD
1210	1220	1230	1240	1250	1260
SGIGTDNNST	SDRAEKFCGQ	KKRRHSFEHV	SLIPPETSTV	LSSLKEKHKH	KCKRRNHDYL
1270	1280	1290	1300	1310	1320
SYDKMKRQKR	KRKKKYPQLR	NRQDPDFIAE	LEELISRLSE	IRITHRSHHF	IPRDLLPTIF
1330	1340	1350	1360	1370	1380
RINFNSFYTH	PSFPLDPLHY	IRKPDLKKKR	GRPPKMREAM	AEMPFMHSLS	FPLSSTGFYP
1390	1400	1410	1420	1430	1440
SYGMPYSPSP	LTAAPIGLGY	YGRYPPTLYP	PPPSPSFTTP	LPPPSYMHAG	HLLLNPAKYH
1450	1460	1470	1480	1490	1500
KKKHKLLRQE	AFLTTSRTPL	LSMSTYPSVP	PEMAYGWMVE	HKHRHRHKHR	EHRSSEQPQV
1510	1520	1530	1540	1550	1560
SMDTGSSRSV	LESLKRYRFG	KDAVGERYKH	KEKHRCHMSC	PHLSPSKSLI	NREEQWVHRE
1570	1580	1590	1600	1610	1620
PSESSPLALG	LQTPLQIDCS	ESSPSLSLGG	FTPNSEPASS	DEHTNLFTSA	IGSCRVSNPN
1630	1640	1650	1660	1670	1680
SSGRKKLTDS	PGLFSAQDTS	LNRLHRKESL	PSNERAVQTL	AGSQPTSDKP	SQRPSESTNC
1690	1700	1710	1720	1730	1740
SPTRKRSSSE	STSSTVNGVP	SRSPRLVASG	DDSVDSLLQR	MVQNEDQEPM	EKSIDAVIAT
1750	1760	1770	1780	1790	1800
ASAPPSSSPG	RSHSKDRTLG	KPDSLLVPAV	TSDSCNNSIS	LLSEKLTSSC	SPHHIKRSVV
1810	1820	1830	1840	1850	1860
EAMQRQARKM	CNYDKILATK	KNLDHVNKIL	KAKKLQRQAR	TGNNFVKRRP	GRPRKCPLQA
1870	1880	1890	1900	1910	1920
VVSMQAFQAA	QFVNPELNRD	EEGAALHLSP	DTVTDVIEAV	VQSVNLNPEH	KKGLKRKGWL
1930	1940	1950	1960	1970	1980
LEEQTRKKQK	PLPEEEEQEN	NKSFNEAPVE	IPSPSETPAK	PSEPESTLQP	VLSLIPREKK
1990	2000	2010	2020	2030	2040
PPRPPKKKYQ	KAGLYSDVYK	TTDPKSRLIQ	LKKEKLEYTP	GEHEYGLFPA	PIHVVFFVSG
2050	2060	2070	2080	2090	2100
KYLRQKRIDF	QLPYDILWQW	KHNQLYKKPD	VPLYKKIRSN	VYVDVKPLSG	YEATTCNCKK
2110	2120	2130	2140	2150	2160
PDDDTRKGCV	DDCLNRMIFA	ECSPNTCPCG	EQCCNQRIQR	HEWVQCLERF	RAEEKGWGIR
2170	2180	2190	2200	2210	2220
TKEPLKAGQF	IIEYLGEVVS	EQEFRNRMIE	QYHNHSDHYC	LNLDSGMVID	SYRMGNEARF
2230	2240	2250	2260	2270	2280
INHSCDPNCE	MQKWSVNGVY	RIGLYALKDM	PAGTELTYDY	NFHSFNVEKQ	QLCKCGFEKC
2290	2300	2310	2320	2330	2340
RGIIGGKSQR	VNGLTSSKNS	QPMATHKKSG	RSKEKRKSKH	KLKKRRGHLS	EEPSENINTP
2350	2360	2370	2380	2390	2400
TRLTPQLQMK	PMSNRERNFV	LKHHVFLVRN	WEKIRQKQEE	VKHTSDNIHS	ASLYTRWNGI
2410	2420	2430	2440	2450	2460
CRDDGNIKSD	VFMTQFSALQ	TARSVRTRRL	AAAEENIEVA	RAARLAQIFK	EICDGIISYK
2470	2480	2490	2500	2510	2520
DSSRQALAAP	LLNLPPKKKN	ADYYEKISDP	LDLITIEKQI	LTGYYKTVEA	FDADMLKVFR
2530	2540	2550	2560	2570	2580
NAEKYYGRKS	PVGRDVCRLR	KAYYNARHEA	SAQIDEIVGE	TASEADSSET	SVSEKENGHE
2590	2600	2610	2620	2630	2640
KDDDVIRCIC	GLYKDEGLMI	QCDKCMVWQH	CDCMGVNSDV	EHYLCEQCDP	RPVDREVPMI
2650	2660	2670	2680	2690	2700
PRPHYAQPGC	VYFICLLRDD	LLLRQGDCVY	LMRDSRRTPD	GHPVRQSYRL	LSHINRDKLD
2710	2720	2730	2740	2750	2760
IFRIEKLWKN	EKEERFAFGH	HYFRPHETHH	SPSRRFYHNE	LFRVPLYEII	PLEAVVGTCC
2770	2780	2790	2800	2810	2820
VLDLYTYCKG	RPKGVKEQDV	YICDYRLDKS	AHLFYKIHRN	RYPVCTKPYA	FDHFPKKLTP
2830	2840	2850	2860	2870	2880
KKDFSPHYVP	DNYKRNGGRS	SWKSERSKPP	LKDLGQEDDA	LPLIEEVLAS	QEQAANEIPS
2890	2900	2910	2920	2930	2940
LEEPEREGAT	ANVSEGEKKT	EESSQEPQST	CTPEERRHNQ	RERLNQILLN	LLEKIPGKNA
2950	2960
IDVTYLLEEG	SGRKLRRRTL	FIPENSFRK